T B NK SCID
MCID: SVR098
MIFTS: 40

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive (T B NK SCID)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Severe Combined Immunodeficiency, Autosomal Recessive, T...

MalaCards integrated aliases for Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive:

Name: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive 58 12 30 6 41
Severe Combined Immunodeficiency, T Cell-Negative, B-Cell/natural Killer-Cell Positive 58 13
Severe Combined Immunodeficiency Autosomal Recessive T-Cell-Negative/b-Cell-Positive/nk-Cell-Positive 76
Severe Combined Immunodeficiency Autosomal Recessive T Cell-Negative/b Cell-Positive/nk Cell-Positive 76
Severe Combined Immunodeficiency Autosomal Recessive T-Cell Negative/b-Cell Positive/nk-Cell Positive 76
Severe Combined Immunodeficiency, T-Cell Negative, B-Cell/natural Killer Cell-Positive Type 58
Scid, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive 58
Autosomal Recessive T Cell-Negative, B-Cell Positive, Nk Cell-Positive Scid 12
T-B+ Severe Combined Immunodeficiency Due to Il-7ralpha Deficiency 60
T-B+ Severe Combined Immunodeficiency Due to Cd45 Deficiency 60
T-B+ Scid Due to Il-7ralpha Deficiency 60
T-B+ Scid Due to Cd45 Deficiency 60
T B Nk Scid 76
Scidbnk 76

Characteristics:

Orphanet epidemiological data:

60

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
presents at 2 to 3 months of age
death within several months if untreated


HPO:

33
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0090014
OMIM 58 608971
MeSH 45 D016511
ICD10 34 D81.2
ICD10 via Orphanet 35 D81.2
UMLS via Orphanet 75 C1837028
MedGen 43 C1837028

Summaries for Severe Combined Immunodeficiency, Autosomal Recessive, T...

UniProtKB/Swiss-Prot : 76 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive: A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development.

MalaCards based summary : Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive, also known as severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive, is related to severe combined immunodeficiency and severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative. An important gene associated with Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive is IL7R (Interleukin 7 Receptor), and among its related pathways/superpathways are T cell receptor signaling pathway and JAK-STAT signaling pathway (KEGG). Affiliated tissues include t cells, b cells and nk cells, and related phenotypes are splenomegaly and hepatomegaly

Disease Ontology : 12 A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has material basis in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31.

Description from OMIM: 608971

Related Diseases for Severe Combined Immunodeficiency, Autosomal Recessive, T...

Diseases related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 13, show less)
# Related Disease Score Top Affiliating Genes
1 severe combined immunodeficiency 29.1 CD3D IL7R PTPRC
2 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 12.0
3 jak3-deficient severe combined immunodeficiency 11.5
4 interleukin-7 receptor alpha deficiency 11.5
5 dyskeratosis congenita, x-linked 10.0
6 immunodeficiency 19 10.0
7 dyskeratosis congenita 10.0
8 combined t cell and b cell immunodeficiency 10.0
9 t cell deficiency 9.8 IL7R PTPRC
10 immunodeficiency 18 9.7 CD3D PTPRC
11 demyelinating disease 9.7 IL7R PTPRC
12 immunodeficiency 17 9.7 CD3D PTPRC
13 multiple sclerosis 9.6 IL7R PTPRC

Graphical network of the top 20 diseases related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive:



Diseases related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive

Symptoms & Phenotypes for Severe Combined Immunodeficiency, Autosomal Recessive, T...

Human phenotypes related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive:

33 (showing 11, show less)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 33 HP:0001744
2 hepatomegaly 33 HP:0002240
3 diarrhea 33 HP:0002014
4 otitis media 33 HP:0000388
5 eczema 33 HP:0000964
6 recurrent opportunistic infections 33 HP:0005390
7 lymphadenopathy 33 HP:0002716
8 decrease in t cell count 33 HP:0005403
9 oral ulcer 33 HP:0000155
10 severe combined immunodeficiency 33 HP:0004430
11 failure to thrive secondary to recurrent infections 33 HP:0008866

Symptoms via clinical synopsis from OMIM:

58
Abdomen Spleen:
splenomegaly

Abdomen Gastrointestinal:
diarrhea

Immunology:
lymphadenopathy
frequent opportunistic infections
normal or elevated numbers of functional natural killer cells (nk)
normal or elevated number of peripheral blood b cells
absent peripheral blood t cells
more
Growth Other:
failure to thrive secondary to recurrent infections

Respiratory Lung:
recurrent acute pneumonia

Abdomen Liver:
hepatomegaly

Head And Neck Ears:
otitis media

Skin Nails Hair Skin:
dermatitis

Head And Neck Mouth:
candida albicans infection
thrush

Clinical features from OMIM:

608971

GenomeRNAi Phenotypes related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive according to GeneCards Suite gene sharing:

27 (showing 12, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.44 PTPRC
2 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.44 PTPRC
3 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.44 IL7R
4 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.44 PTPRC
5 Increased shRNA abundance (Z-score > 2) GR00366-A-156 9.44 IL7R
6 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.44 IL7R
7 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.44 IL7R
8 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.44 IL7R PTPRC
9 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.44 PTPRC
10 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.44 PTPRC
11 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.44 IL7R
12 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.44 PTPRC

Drugs & Therapeutics for Severe Combined Immunodeficiency, Autosomal Recessive, T...

Search Clinical Trials , NIH Clinical Center for Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive

Genetic Tests for Severe Combined Immunodeficiency, Autosomal Recessive, T...

Genetic tests related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive:

# Genetic test Affiliating Genes
1 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive 30 IL7R PTPRC

Anatomical Context for Severe Combined Immunodeficiency, Autosomal Recessive, T...

MalaCards organs/tissues related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive:

42
T Cells, B Cells, Nk Cells, Bone, Bone Marrow

Publications for Severe Combined Immunodeficiency, Autosomal Recessive, T...

Articles related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive:

(showing 9, show less)
# Title Authors Year
1
A novel pathogenic frameshift variant of CD3E gene in two T-B+ NK+ SCID patients from Turkey. ( 28597365 )
2017
2
CD45-deficient severe combined immunodeficiency caused by uniparental disomy. ( 22689986 )
2012
3
Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID. ( 21883749 )
2011
4
A novel missense RAG-1 mutation results in T-B-NK+ SCID in Athabascan-speaking Dine Indians from the Canadian Northwest Territories. ( 18701881 )
2009
5
A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome. ( 12437656 )
2002
6
A deletion in the gene encoding the CD45 antigen in a patient with SCID. ( 11145714 )
2001
7
Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease. ( 10700239 )
2000
8
A partial deficiency of interleukin-7R alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency. ( 11023514 )
2000
9
Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency. ( 9843216 )
1998

Variations for Severe Combined Immunodeficiency, Autosomal Recessive, T...

UniProtKB/Swiss-Prot genetic disease variations for Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive:

76 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 IL7R p.Pro132Ser VAR_034870 rs104893894

ClinVar genetic disease variations for Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive:

6 (showing 231, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 PTPRC PTPRC, IVS13DS, G-A, +1 single nucleotide variant Pathogenic
2 PTPRC PTPRC, 6-BP DEL, NT1168 deletion Pathogenic
3 IL7R NM_002185.3(IL7R): c.197T> C (p.Ile66Thr) single nucleotide variant Benign rs1494558 GRCh37 Chromosome 5, 35861068: 35861068
4 IL7R NM_002185.3(IL7R): c.197T> C (p.Ile66Thr) single nucleotide variant Benign rs1494558 GRCh38 Chromosome 5, 35860966: 35860966
5 IL7R NM_002185.3(IL7R): c.412G> A (p.Val138Ile) single nucleotide variant Benign rs1494555 GRCh37 Chromosome 5, 35871190: 35871190
6 IL7R NM_002185.3(IL7R): c.412G> A (p.Val138Ile) single nucleotide variant Benign rs1494555 GRCh38 Chromosome 5, 35871088: 35871088
7 IL7R NM_002185.3(IL7R): c.538-1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 5, 35873479: 35873479
8 IL7R NM_002185.3(IL7R): c.538-1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 5, 35873581: 35873581
9 IL7R NM_002185.4(IL7R): c.651G> A (p.Trp217Ter) single nucleotide variant Pathogenic rs104893893 GRCh37 Chromosome 5, 35873695: 35873695
10 IL7R NM_002185.4(IL7R): c.651G> A (p.Trp217Ter) single nucleotide variant Pathogenic rs104893893 GRCh38 Chromosome 5, 35873593: 35873593
11 IL7R NM_002185.4(IL7R): c.394C> T (p.Pro132Ser) single nucleotide variant Pathogenic rs104893894 GRCh37 Chromosome 5, 35871172: 35871172
12 IL7R NM_002185.4(IL7R): c.394C> T (p.Pro132Ser) single nucleotide variant Pathogenic rs104893894 GRCh38 Chromosome 5, 35871070: 35871070
13 IL7R NM_002185.5(IL7R): c.617G> A (p.Arg206Gln) single nucleotide variant Uncertain significance rs193922644 GRCh37 Chromosome 5, 35873661: 35873661
14 IL7R NM_002185.5(IL7R): c.617G> A (p.Arg206Gln) single nucleotide variant Uncertain significance rs193922644 GRCh38 Chromosome 5, 35873559: 35873559
15 PTPRC NM_002838.4(PTPRC): c.1624A> T (p.Lys542Ter) single nucleotide variant Pathogenic rs398122383 GRCh37 Chromosome 1, 198687396: 198687396
16 PTPRC NM_002838.4(PTPRC): c.1624A> T (p.Lys542Ter) single nucleotide variant Pathogenic rs398122383 GRCh38 Chromosome 1, 198718267: 198718267
17 IL7R NM_002185.2(IL7R): c.662G> T (p.Ser221Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs587778405 GRCh37 Chromosome 5, 35873706: 35873706
18 IL7R NM_002185.2(IL7R): c.662G> T (p.Ser221Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs587778405 GRCh38 Chromosome 5, 35873604: 35873604
19 IL7R NM_002185.4(IL7R): c.760G> A (p.Ala254Thr) single nucleotide variant Uncertain significance rs137868226 GRCh37 Chromosome 5, 35874604: 35874604
20 IL7R NM_002185.4(IL7R): c.760G> A (p.Ala254Thr) single nucleotide variant Uncertain significance rs137868226 GRCh38 Chromosome 5, 35874502: 35874502
21 IL7R NM_002185.4(IL7R): c.1043A> C (p.Asn348Thr) single nucleotide variant Benign rs41270321 GRCh37 Chromosome 5, 35876251: 35876251
22 IL7R NM_002185.4(IL7R): c.1043A> C (p.Asn348Thr) single nucleotide variant Benign rs41270321 GRCh38 Chromosome 5, 35876149: 35876149
23 IL7R NM_002185.4(IL7R): c.1231A> G (p.Thr411Ala) single nucleotide variant Benign/Likely benign rs115316501 GRCh37 Chromosome 5, 35876439: 35876439
24 IL7R NM_002185.4(IL7R): c.1231A> G (p.Thr411Ala) single nucleotide variant Benign/Likely benign rs115316501 GRCh38 Chromosome 5, 35876337: 35876337
25 IL7R NM_002185.4(IL7R): c.1241C> T (p.Thr414Met) single nucleotide variant Benign/Likely benign rs2229232 GRCh37 Chromosome 5, 35876449: 35876449
26 IL7R NM_002185.4(IL7R): c.1241C> T (p.Thr414Met) single nucleotide variant Benign/Likely benign rs2229232 GRCh38 Chromosome 5, 35876347: 35876347
27 IL7R NM_002185.4(IL7R): c.1096T> C (p.Ser366Pro) single nucleotide variant Uncertain significance rs201671392 GRCh37 Chromosome 5, 35876304: 35876304
28 IL7R NM_002185.4(IL7R): c.1096T> C (p.Ser366Pro) single nucleotide variant Uncertain significance rs201671392 GRCh38 Chromosome 5, 35876202: 35876202
29 IL7R NM_002185.4(IL7R): c.1357T> C (p.Ser453Pro) single nucleotide variant Uncertain significance rs141919625 GRCh37 Chromosome 5, 35876565: 35876565
30 IL7R NM_002185.4(IL7R): c.1357T> C (p.Ser453Pro) single nucleotide variant Uncertain significance rs141919625 GRCh38 Chromosome 5, 35876463: 35876463
31 IL7R NM_002185.4(IL7R): c.561G> A (p.Lys187=) single nucleotide variant Benign/Likely benign rs11567764 GRCh38 Chromosome 5, 35873503: 35873503
32 IL7R NM_002185.4(IL7R): c.561G> A (p.Lys187=) single nucleotide variant Benign/Likely benign rs11567764 GRCh37 Chromosome 5, 35873605: 35873605
33 PTPRC NM_002838.4(PTPRC): c.3402C> T (p.Pro1134=) single nucleotide variant Benign rs61757805 GRCh37 Chromosome 1, 198721794: 198721794
34 PTPRC NM_002838.4(PTPRC): c.3402C> T (p.Pro1134=) single nucleotide variant Benign rs61757805 GRCh38 Chromosome 1, 198752665: 198752665
35 PTPRC NM_002838.4(PTPRC): c.367G> C (p.Asp123His) single nucleotide variant Benign rs41269905 GRCh37 Chromosome 1, 198668761: 198668761
36 PTPRC NM_002838.4(PTPRC): c.367G> C (p.Asp123His) single nucleotide variant Benign rs41269905 GRCh38 Chromosome 1, 198699632: 198699632
37 PTPRC NM_002838.4(PTPRC): c.886A> C (p.Ile296Leu) single nucleotide variant Benign rs2230606 GRCh37 Chromosome 1, 198676063: 198676063
38 PTPRC NM_002838.4(PTPRC): c.886A> C (p.Ile296Leu) single nucleotide variant Benign rs2230606 GRCh38 Chromosome 1, 198706934: 198706934
39 PTPRC NM_002838.4(PTPRC): c.1029G> A (p.Gln343=) single nucleotide variant Benign rs41314043 GRCh37 Chromosome 1, 198677386: 198677386
40 PTPRC NM_002838.4(PTPRC): c.1029G> A (p.Gln343=) single nucleotide variant Benign rs41314043 GRCh38 Chromosome 1, 198708257: 198708257
41 PTPRC NM_002838.4(PTPRC): c.1710T> A (p.His570Gln) single nucleotide variant Benign rs12136658 GRCh37 Chromosome 1, 198691595: 198691595
42 PTPRC NM_002838.4(PTPRC): c.1710T> A (p.His570Gln) single nucleotide variant Benign rs12136658 GRCh38 Chromosome 1, 198722466: 198722466
43 PTPRC NM_002838.4(PTPRC): c.3545T> C (p.Leu1182Ser) single nucleotide variant Uncertain significance rs114970039 GRCh38 Chromosome 1, 198754304: 198754304
44 PTPRC NM_002838.4(PTPRC): c.3545T> C (p.Leu1182Ser) single nucleotide variant Uncertain significance rs114970039 GRCh37 Chromosome 1, 198723433: 198723433
45 IL7R NM_002185.4(IL7R): c.333T> A (p.Val111=) single nucleotide variant Pathogenic rs199641706 GRCh37 Chromosome 5, 35867519: 35867519
46 IL7R NM_002185.4(IL7R): c.333T> A (p.Val111=) single nucleotide variant Pathogenic rs199641706 GRCh38 Chromosome 5, 35867417: 35867417
47 IL7R NM_002185.4(IL7R): c.361dup (p.Ile121Asnfs) duplication Pathogenic rs869312857 GRCh38 Chromosome 5, 35867445: 35867445
48 IL7R NM_002185.4(IL7R): c.361dup (p.Ile121Asnfs) duplication Pathogenic rs869312857 GRCh37 Chromosome 5, 35867547: 35867547
49 IL7R NC_000005.9 deletion Pathogenic GRCh37 Chromosome 5, 35862009: 35867620
50 IL7R NM_002185.2(IL7R): c.221+2T> G single nucleotide variant Pathogenic rs200044623 GRCh37 Chromosome 5, 35861094: 35861094
51 IL7R NM_002185.2(IL7R): c.221+2T> G single nucleotide variant Pathogenic rs200044623 GRCh38 Chromosome 5, 35860992: 35860992
52 IL7R NM_002185.4(IL7R): c.153G> A (p.Ser51=) single nucleotide variant Benign/Likely benign rs149235072 GRCh38 Chromosome 5, 35860922: 35860922
53 IL7R NM_002185.4(IL7R): c.153G> A (p.Ser51=) single nucleotide variant Benign/Likely benign rs149235072 GRCh37 Chromosome 5, 35861024: 35861024
54 IL7R NM_002185.4(IL7R): c.1165G> C (p.Asp389His) single nucleotide variant Uncertain significance rs143596606 GRCh37 Chromosome 5, 35876373: 35876373
55 IL7R NM_002185.4(IL7R): c.1165G> C (p.Asp389His) single nucleotide variant Uncertain significance rs143596606 GRCh38 Chromosome 5, 35876271: 35876271
56 PTPRC NM_002838.4(PTPRC): c.2526C> T (p.Ser842=) single nucleotide variant Conflicting interpretations of pathogenicity rs373509702 GRCh37 Chromosome 1, 198711120: 198711120
57 PTPRC NM_002838.4(PTPRC): c.2526C> T (p.Ser842=) single nucleotide variant Conflicting interpretations of pathogenicity rs373509702 GRCh38 Chromosome 1, 198741991: 198741991
58 PTPRC NM_002838.4(PTPRC): c.1268C> T (p.Thr423Ile) single nucleotide variant Benign/Likely benign rs6696162 GRCh37 Chromosome 1, 198682178: 198682178
59 PTPRC NM_002838.4(PTPRC): c.1268C> T (p.Thr423Ile) single nucleotide variant Benign/Likely benign rs6696162 GRCh38 Chromosome 1, 198713049: 198713049
60 PTPRC NM_002838.4(PTPRC): c.177C> G (p.Pro59=) single nucleotide variant Benign/Likely benign rs17612648 GRCh37 Chromosome 1, 198665917: 198665917
61 PTPRC NM_002838.4(PTPRC): c.177C> G (p.Pro59=) single nucleotide variant Benign/Likely benign rs17612648 GRCh38 Chromosome 1, 198696788: 198696788
62 PTPRC NM_002838.4(PTPRC): c.3780T> C (p.Asn1260=) single nucleotide variant Benign rs1058191 GRCh37 Chromosome 1, 198725169: 198725169
63 PTPRC NM_002838.4(PTPRC): c.3780T> C (p.Asn1260=) single nucleotide variant Benign rs1058191 GRCh38 Chromosome 1, 198756040: 198756040
64 PTPRC NM_002838.4(PTPRC): c.132A> G (p.Pro44=) single nucleotide variant Benign/Likely benign rs115797104 GRCh37 Chromosome 1, 198665872: 198665872
65 PTPRC NM_002838.4(PTPRC): c.132A> G (p.Pro44=) single nucleotide variant Benign/Likely benign rs115797104 GRCh38 Chromosome 1, 198696743: 198696743
66 PTPRC NM_002838.3(PTPRC): c.776G> T (p.Gly261Val) single nucleotide variant Uncertain significance rs142941257 GRCh37 Chromosome 1, 198675959: 198675959
67 PTPRC NM_002838.3(PTPRC): c.776G> T (p.Gly261Val) single nucleotide variant Uncertain significance rs142941257 GRCh38 Chromosome 1, 198706830: 198706830
68 PTPRC NM_002838.4(PTPRC): c.1052A> G (p.Asn351Ser) single nucleotide variant Benign rs79141749 GRCh37 Chromosome 1, 198678834: 198678834
69 PTPRC NM_002838.4(PTPRC): c.1052A> G (p.Asn351Ser) single nucleotide variant Benign rs79141749 GRCh38 Chromosome 1, 198709705: 198709705
70 PTPRC NM_002838.4(PTPRC): c.3510-3T> C single nucleotide variant Likely benign rs142096878 GRCh37 Chromosome 1, 198723395: 198723395
71 PTPRC NM_002838.4(PTPRC): c.3510-3T> C single nucleotide variant Likely benign rs142096878 GRCh38 Chromosome 1, 198754266: 198754266
72 IL7R NM_002185.4(IL7R): c.132C> T (p.Ser44=) single nucleotide variant Benign rs11567704 GRCh38 Chromosome 5, 35860901: 35860901
73 IL7R NM_002185.4(IL7R): c.132C> T (p.Ser44=) single nucleotide variant Benign rs11567704 GRCh37 Chromosome 5, 35861003: 35861003
74 IL7R NM_002185.4(IL7R): c.339A> C (p.Glu113Asp) single nucleotide variant Likely benign rs11567735 GRCh37 Chromosome 5, 35867525: 35867525
75 IL7R NM_002185.4(IL7R): c.339A> C (p.Glu113Asp) single nucleotide variant Likely benign rs11567735 GRCh38 Chromosome 5, 35867423: 35867423
76 IL7R NM_002185.2(IL7R): c.778G> A (p.Ala260Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs147153824 GRCh38 Chromosome 5, 35874520: 35874520
77 IL7R NM_002185.2(IL7R): c.778G> A (p.Ala260Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs147153824 GRCh37 Chromosome 5, 35874622: 35874622
78 PTPRC NM_002838.4(PTPRC): c.3670G> A (p.Val1224Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs150672767 GRCh37 Chromosome 1, 198725059: 198725059
79 PTPRC NM_002838.4(PTPRC): c.3670G> A (p.Val1224Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs150672767 GRCh38 Chromosome 1, 198755930: 198755930
80 PTPRC NM_002838.4(PTPRC): c.982A> G (p.Ile328Val) single nucleotide variant Uncertain significance rs41314039 GRCh37 Chromosome 1, 198677339: 198677339
81 PTPRC NM_002838.4(PTPRC): c.982A> G (p.Ile328Val) single nucleotide variant Uncertain significance rs41314039 GRCh38 Chromosome 1, 198708210: 198708210
82 PTPRC NM_002838.4(PTPRC): c.1297G> A (p.Asp433Asn) single nucleotide variant Uncertain significance rs140403368 GRCh37 Chromosome 1, 198685816: 198685816
83 PTPRC NM_002838.4(PTPRC): c.1297G> A (p.Asp433Asn) single nucleotide variant Uncertain significance rs140403368 GRCh38 Chromosome 1, 198716687: 198716687
84 PTPRC NM_002838.4(PTPRC): c.1737G> T (p.Leu579=) single nucleotide variant Likely benign rs112713919 GRCh37 Chromosome 1, 198697485: 198697485
85 PTPRC NM_002838.4(PTPRC): c.1737G> T (p.Leu579=) single nucleotide variant Likely benign rs112713919 GRCh38 Chromosome 1, 198728356: 198728356
86 PTPRC NM_002838.4(PTPRC): c.2395A> T (p.Ile799Phe) single nucleotide variant Uncertain significance rs185420520 GRCh37 Chromosome 1, 198704373: 198704373
87 PTPRC NM_002838.4(PTPRC): c.2395A> T (p.Ile799Phe) single nucleotide variant Uncertain significance rs185420520 GRCh38 Chromosome 1, 198735244: 198735244
88 PTPRC NM_002838.4(PTPRC): c.577A> G (p.Thr193Ala) single nucleotide variant Benign rs4915154 GRCh37 Chromosome 1, 198671653: 198671653
89 PTPRC NM_002838.4(PTPRC): c.577A> G (p.Thr193Ala) single nucleotide variant Benign rs4915154 GRCh38 Chromosome 1, 198702524: 198702524
90 PTPRC NM_002838.4(PTPRC): c.1456A> G (p.Ser486Gly) single nucleotide variant Uncertain significance rs1432775291 GRCh37 Chromosome 1, 198687228: 198687228
91 PTPRC NM_002838.4(PTPRC): c.1456A> G (p.Ser486Gly) single nucleotide variant Uncertain significance rs1432775291 GRCh38 Chromosome 1, 198718099: 198718099
92 PTPRC NM_002838.4(PTPRC): c.2543C> T (p.Pro848Leu) single nucleotide variant Uncertain significance rs765136427 GRCh37 Chromosome 1, 198711137: 198711137
93 PTPRC NM_002838.4(PTPRC): c.2543C> T (p.Pro848Leu) single nucleotide variant Uncertain significance rs765136427 GRCh38 Chromosome 1, 198742008: 198742008
94 IL7R NM_002185.4(IL7R): c.509G> A (p.Arg170His) single nucleotide variant Likely benign rs149161098 GRCh37 Chromosome 5, 35871287: 35871287
95 IL7R NM_002185.4(IL7R): c.509G> A (p.Arg170His) single nucleotide variant Likely benign rs149161098 GRCh38 Chromosome 5, 35871185: 35871185
96 IL7R NM_002185.4(IL7R): c.1007A> G (p.Glu336Gly) single nucleotide variant Likely benign rs770237630 GRCh37 Chromosome 5, 35876215: 35876215
97 IL7R NM_002185.4(IL7R): c.1007A> G (p.Glu336Gly) single nucleotide variant Likely benign rs770237630 GRCh38 Chromosome 5, 35876113: 35876113
98 IL7R NM_002185.4(IL7R): c.753dup (p.Ser252Leufs) duplication Pathogenic rs1554067182 GRCh37 Chromosome 5, 35874597: 35874597
99 IL7R NM_002185.4(IL7R): c.753dup (p.Ser252Leufs) duplication Pathogenic rs1554067182 GRCh38 Chromosome 5, 35874495: 35874495
100 PTPRC NM_002838.4(PTPRC): c.1568A> T (p.Glu523Val) single nucleotide variant Conflicting interpretations of pathogenicity rs116464756 GRCh37 Chromosome 1, 198687340: 198687340
101 PTPRC NM_002838.4(PTPRC): c.1568A> T (p.Glu523Val) single nucleotide variant Conflicting interpretations of pathogenicity rs116464756 GRCh38 Chromosome 1, 198718211: 198718211
102 CD3D NM_000732.4(CD3D): c.451-18T> G single nucleotide variant Benign rs2276424 GRCh37 Chromosome 11, 118209960: 118209960
103 CD3D NM_000732.4(CD3D): c.451-18T> G single nucleotide variant Benign rs2276424 GRCh38 Chromosome 11, 118339245: 118339245
104 PTPRC NM_002838.4(PTPRC): c.3126C> T (p.Thr1042=) single nucleotide variant Likely benign rs375079291 GRCh37 Chromosome 1, 198719674: 198719674
105 PTPRC NM_002838.4(PTPRC): c.3126C> T (p.Thr1042=) single nucleotide variant Likely benign rs375079291 GRCh38 Chromosome 1, 198750545: 198750545
106 PTPRC NM_002838.4(PTPRC): c.1584G> A (p.Leu528=) single nucleotide variant Benign rs148497366 GRCh38 Chromosome 1, 198718227: 198718227
107 PTPRC NM_002838.4(PTPRC): c.1584G> A (p.Leu528=) single nucleotide variant Benign rs148497366 GRCh37 Chromosome 1, 198687356: 198687356
108 PTPRC NM_002838.4(PTPRC): c.2044C> G (p.Arg682Gly) single nucleotide variant Uncertain significance rs1553243145 GRCh38 Chromosome 1, 198732369: 198732369
109 PTPRC NM_002838.4(PTPRC): c.2044C> G (p.Arg682Gly) single nucleotide variant Uncertain significance rs1553243145 GRCh37 Chromosome 1, 198701498: 198701498
110 PTPRC NM_002838.4(PTPRC): c.2709C> T (p.Ile903=) single nucleotide variant Likely benign rs1553244701 GRCh37 Chromosome 1, 198713194: 198713194
111 PTPRC NM_002838.4(PTPRC): c.2709C> T (p.Ile903=) single nucleotide variant Likely benign rs1553244701 GRCh38 Chromosome 1, 198744065: 198744065
112 PTPRC NM_002838.4(PTPRC): c.2779C> G (p.Pro927Ala) single nucleotide variant Uncertain significance rs376357337 GRCh37 Chromosome 1, 198713264: 198713264
113 PTPRC NM_002838.4(PTPRC): c.2779C> G (p.Pro927Ala) single nucleotide variant Uncertain significance rs376357337 GRCh38 Chromosome 1, 198744135: 198744135
114 PTPRC NM_002838.4(PTPRC): c.2793C> A (p.Asn931Lys) single nucleotide variant Uncertain significance rs149625776 GRCh37 Chromosome 1, 198713278: 198713278
115 PTPRC NM_002838.4(PTPRC): c.2793C> A (p.Asn931Lys) single nucleotide variant Uncertain significance rs149625776 GRCh38 Chromosome 1, 198744149: 198744149
116 PTPRC NM_002838.4(PTPRC): c.3914G> C (p.Gly1305Ala) single nucleotide variant Likely benign rs148331492 GRCh38 Chromosome 1, 198756174: 198756174
117 PTPRC NM_002838.4(PTPRC): c.3914G> C (p.Gly1305Ala) single nucleotide variant Likely benign rs148331492 GRCh37 Chromosome 1, 198725303: 198725303
118 PTPRC NM_002838.4(PTPRC): c.658+6A> G single nucleotide variant Uncertain significance rs61757807 GRCh38 Chromosome 1, 198703378: 198703378
119 PTPRC NM_002838.4(PTPRC): c.658+6A> G single nucleotide variant Uncertain significance rs61757807 GRCh37 Chromosome 1, 198672507: 198672507
120 PTPRC NM_002838.4(PTPRC): c.768G> C (p.Glu256Asp) single nucleotide variant Uncertain significance rs780129489 GRCh38 Chromosome 1, 198706816: 198706816
121 PTPRC NM_002838.4(PTPRC): c.768G> C (p.Glu256Asp) single nucleotide variant Uncertain significance rs780129489 GRCh37 Chromosome 1, 198675945: 198675945
122 PTPRC NM_002838.4(PTPRC): c.154A> G (p.Thr52Ala) single nucleotide variant Benign rs114764326 GRCh38 Chromosome 1, 198696765: 198696765
123 PTPRC NM_002838.4(PTPRC): c.154A> G (p.Thr52Ala) single nucleotide variant Benign rs114764326 GRCh37 Chromosome 1, 198665894: 198665894
124 PTPRC NM_002838.4(PTPRC): c.837G> A (p.Ala279=) single nucleotide variant Likely benign rs137909392 GRCh37 Chromosome 1, 198676014: 198676014
125 PTPRC NM_002838.4(PTPRC): c.837G> A (p.Ala279=) single nucleotide variant Likely benign rs137909392 GRCh38 Chromosome 1, 198706885: 198706885
126 PTPRC NM_002838.4(PTPRC): c.352C> A (p.Pro118Thr) single nucleotide variant Uncertain significance rs1553237882 GRCh37 Chromosome 1, 198668746: 198668746
127 PTPRC NM_002838.4(PTPRC): c.352C> A (p.Pro118Thr) single nucleotide variant Uncertain significance rs1553237882 GRCh38 Chromosome 1, 198699617: 198699617
128 PTPRC NM_002838.4(PTPRC): c.646A> C (p.Thr216Pro) single nucleotide variant Likely benign rs148561683 GRCh38 Chromosome 1, 198703360: 198703360
129 PTPRC NM_002838.4(PTPRC): c.646A> C (p.Thr216Pro) single nucleotide variant Likely benign rs148561683 GRCh37 Chromosome 1, 198672489: 198672489
130 PTPRC NM_002838.4(PTPRC): c.2628G> A (p.Glu876=) single nucleotide variant Likely benign rs531164121 GRCh37 Chromosome 1, 198711427: 198711427
131 PTPRC NM_002838.4(PTPRC): c.2628G> A (p.Glu876=) single nucleotide variant Likely benign rs531164121 GRCh38 Chromosome 1, 198742298: 198742298
132 PTPRC NM_002838.4(PTPRC): c.920A> G (p.Gln307Arg) single nucleotide variant Uncertain significance rs1553239425 GRCh37 Chromosome 1, 198677277: 198677277
133 PTPRC NM_002838.4(PTPRC): c.920A> G (p.Gln307Arg) single nucleotide variant Uncertain significance rs1553239425 GRCh38 Chromosome 1, 198708148: 198708148
134 PTPRC NM_002838.4(PTPRC): c.2998G> A (p.Asp1000Asn) single nucleotide variant Uncertain significance rs145944629 GRCh37 Chromosome 1, 198718604: 198718604
135 PTPRC NM_002838.4(PTPRC): c.2998G> A (p.Asp1000Asn) single nucleotide variant Uncertain significance rs145944629 GRCh38 Chromosome 1, 198749475: 198749475
136 PTPRC NM_002838.4(PTPRC): c.3073-6A> G single nucleotide variant Conflicting interpretations of pathogenicity rs191867796 GRCh37 Chromosome 1, 198719615: 198719615
137 PTPRC NM_002838.4(PTPRC): c.3073-6A> G single nucleotide variant Conflicting interpretations of pathogenicity rs191867796 GRCh38 Chromosome 1, 198750486: 198750486
138 PTPRC NM_002838.4(PTPRC): c.985G> A (p.Glu329Lys) single nucleotide variant Uncertain significance rs2274367 GRCh37 Chromosome 1, 198677342: 198677342
139 PTPRC NM_002838.4(PTPRC): c.985G> A (p.Glu329Lys) single nucleotide variant Uncertain significance rs2274367 GRCh38 Chromosome 1, 198708213: 198708213
140 PTPRC NM_002838.4(PTPRC): c.1033+9A> G single nucleotide variant Likely benign rs376985465 GRCh38 Chromosome 1, 198708270: 198708270
141 PTPRC NM_002838.4(PTPRC): c.1033+9A> G single nucleotide variant Likely benign rs376985465 GRCh37 Chromosome 1, 198677399: 198677399
142 PTPRC NM_002838.4(PTPRC): c.1471A> C (p.Met491Leu) single nucleotide variant Uncertain significance rs910573647 GRCh38 Chromosome 1, 198718114: 198718114
143 PTPRC NM_002838.4(PTPRC): c.1471A> C (p.Met491Leu) single nucleotide variant Uncertain significance rs910573647 GRCh37 Chromosome 1, 198687243: 198687243
144 PTPRC NM_002838.4(PTPRC): c.1599G> C (p.Ser533=) single nucleotide variant Likely benign rs372045826 GRCh38 Chromosome 1, 198718242: 198718242
145 PTPRC NM_002838.4(PTPRC): c.1599G> C (p.Ser533=) single nucleotide variant Likely benign rs372045826 GRCh37 Chromosome 1, 198687371: 198687371
146 PTPRC NM_002838.4(PTPRC): c.1704A> G (p.Leu568=) single nucleotide variant Benign rs148811970 GRCh38 Chromosome 1, 198722460: 198722460
147 PTPRC NM_002838.4(PTPRC): c.1704A> G (p.Leu568=) single nucleotide variant Benign rs148811970 GRCh37 Chromosome 1, 198691589: 198691589
148 PTPRC NM_002838.4(PTPRC): c.1864+8T> C single nucleotide variant Likely benign rs201509539 GRCh37 Chromosome 1, 198698308: 198698308
149 PTPRC NM_002838.4(PTPRC): c.1864+8T> C single nucleotide variant Likely benign rs201509539 GRCh38 Chromosome 1, 198729179: 198729179
150 PTPRC NM_002838.4(PTPRC): c.2403+1G> A single nucleotide variant Likely pathogenic rs1553243550 GRCh37 Chromosome 1, 198704382: 198704382
151 PTPRC NM_002838.4(PTPRC): c.2403+1G> A single nucleotide variant Likely pathogenic rs1553243550 GRCh38 Chromosome 1, 198735253: 198735253
152 IL7R NC_000005.10: g.(?_35867286)_(35867483_?)del deletion Pathogenic GRCh38 Chromosome 5, 35867286: 35867483
153 IL7R NC_000005.10: g.(?_35867286)_(35867483_?)del deletion Pathogenic GRCh37 Chromosome 5, 35867388: 35867585
154 IL7R NM_002185.4(IL7R): c.51C> T (p.Val17=) single nucleotide variant Likely benign rs138981776 GRCh38 Chromosome 5, 35857028: 35857028
155 IL7R NM_002185.4(IL7R): c.51C> T (p.Val17=) single nucleotide variant Likely benign rs138981776 GRCh37 Chromosome 5, 35857130: 35857130
156 IL7R NM_002185.4(IL7R): c.291_294del (p.Lys97Asnfs) deletion Pathogenic rs1554066684 GRCh38 Chromosome 5, 35867375: 35867378
157 IL7R NM_002185.4(IL7R): c.291_294del (p.Lys97Asnfs) deletion Pathogenic rs1554066684 GRCh37 Chromosome 5, 35867477: 35867480
158 IL7R NM_002185.4(IL7R): c.519G> A (p.Lys173=) single nucleotide variant Likely benign rs143661008 GRCh38 Chromosome 5, 35871195: 35871195
159 IL7R NM_002185.4(IL7R): c.519G> A (p.Lys173=) single nucleotide variant Likely benign rs143661008 GRCh37 Chromosome 5, 35871297: 35871297
160 IL7R NM_002185.4(IL7R): c.81T> A (p.Asn27Lys) single nucleotide variant Uncertain significance rs753451294 GRCh38 Chromosome 5, 35857058: 35857058
161 IL7R NM_002185.4(IL7R): c.81T> A (p.Asn27Lys) single nucleotide variant Uncertain significance rs753451294 GRCh37 Chromosome 5, 35857160: 35857160
162 IL7R NM_002185.4(IL7R): c.1200G> A (p.Val400=) single nucleotide variant Benign rs140634356 GRCh38 Chromosome 5, 35876306: 35876306
163 IL7R NM_002185.4(IL7R): c.1200G> A (p.Val400=) single nucleotide variant Benign rs140634356 GRCh37 Chromosome 5, 35876408: 35876408
164 PTPRC NM_002838.4(PTPRC): c.535G> A (p.Ala179Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 198702482: 198702482
165 PTPRC NM_002838.4(PTPRC): c.535G> A (p.Ala179Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 198671611: 198671611
166 PTPRC NM_002838.4(PTPRC): c.847A> G (p.Ile283Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 198706895: 198706895
167 PTPRC NM_002838.4(PTPRC): c.847A> G (p.Ile283Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 198676024: 198676024
168 PTPRC NM_002838.4(PTPRC): c.1003A> G (p.Thr335Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 198708231: 198708231
169 PTPRC NM_002838.4(PTPRC): c.1003A> G (p.Thr335Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 198677360: 198677360
170 PTPRC NM_002838.4(PTPRC): c.1321C> A (p.Leu441Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 198716711: 198716711
171 PTPRC NM_002838.4(PTPRC): c.1321C> A (p.Leu441Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 198685840: 198685840
172 PTPRC NM_002838.4(PTPRC): c.1357A> T (p.Thr453Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 198716747: 198716747
173 PTPRC NM_002838.4(PTPRC): c.1357A> T (p.Thr453Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 198685876: 198685876
174 PTPRC NM_002838.4(PTPRC): c.1441A> G (p.Lys481Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 198685960: 198685960
175 PTPRC NM_002838.4(PTPRC): c.1441A> G (p.Lys481Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 198716831: 198716831
176 PTPRC NM_002838.4(PTPRC): c.2495T> C (p.Leu832Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 198711089: 198711089
177 PTPRC NM_002838.4(PTPRC): c.2495T> C (p.Leu832Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 198741960: 198741960
178 PTPRC NM_002838.4(PTPRC): c.260C> T (p.Pro87Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 198696871: 198696871
179 PTPRC NM_002838.4(PTPRC): c.260C> T (p.Pro87Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 198666000: 198666000
180 PTPRC NM_002838.4(PTPRC): c.2834A> G (p.Glu945Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 198744190: 198744190
181 PTPRC NM_002838.4(PTPRC): c.2834A> G (p.Glu945Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 198713319: 198713319
182 PTPRC NM_002838.4(PTPRC): c.2305A> G (p.Met769Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 198704283: 198704283
183 PTPRC NM_002838.4(PTPRC): c.2305A> G (p.Met769Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 198735154: 198735154
184 PTPRC NM_002838.4(PTPRC): c.2607G> A (p.Met869Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 198711406: 198711406
185 PTPRC NM_002838.4(PTPRC): c.2607G> A (p.Met869Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 198742277: 198742277
186 PTPRC NM_002838.4(PTPRC): c.700A> G (p.Asn234Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 198706748: 198706748
187 PTPRC NM_002838.4(PTPRC): c.700A> G (p.Asn234Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 198675877: 198675877
188 PTPRC NM_002838.4(PTPRC): c.995C> T (p.Thr332Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 198708223: 198708223
189 PTPRC NM_002838.4(PTPRC): c.995C> T (p.Thr332Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 198677352: 198677352
190 PTPRC NM_002838.4(PTPRC): c.1062T> G (p.Ile354Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 198709715: 198709715
191 PTPRC NM_002838.4(PTPRC): c.1062T> G (p.Ile354Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 198678844: 198678844
192 PTPRC NM_002838.4(PTPRC): c.1556A> G (p.His519Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 198687328: 198687328
193 PTPRC NM_002838.4(PTPRC): c.1556A> G (p.His519Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 198718199: 198718199
194 PTPRC NM_002838.4(PTPRC): c.2044C> T (p.Arg682Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 198701498: 198701498
195 PTPRC NM_002838.4(PTPRC): c.2044C> T (p.Arg682Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 198732369: 198732369
196 PTPRC NM_002838.4(PTPRC): c.2320C> T (p.Arg774Trp) single nucleotide variant Uncertain significance rs200672643 GRCh37 Chromosome 1, 198704298: 198704298
197 PTPRC NM_002838.4(PTPRC): c.2320C> T (p.Arg774Trp) single nucleotide variant Uncertain significance rs200672643 GRCh38 Chromosome 1, 198735169: 198735169
198 PTPRC NM_002838.4(PTPRC): c.3404A> C (p.Lys1135Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 198721796: 198721796
199 PTPRC NM_002838.4(PTPRC): c.3404A> C (p.Lys1135Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 198752667: 198752667
200 PTPRC NM_002838.4(PTPRC): c.3844G> C (p.Glu1282Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 198725233: 198725233
201 PTPRC NM_002838.4(PTPRC): c.3844G> C (p.Glu1282Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 198756104: 198756104
202 IL7R NM_002185.4(IL7R): c.437_438del (p.Phe146Cysfs) deletion Pathogenic GRCh37 Chromosome 5, 35871215: 35871216
203 IL7R NM_002185.4(IL7R): c.437_438del (p.Phe146Cysfs) deletion Pathogenic GRCh38 Chromosome 5, 35871113: 35871114
204 IL7R NM_002185.4(IL7R): c.232G> A (p.Val78Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 35867316: 35867316
205 IL7R NM_002185.4(IL7R): c.232G> A (p.Val78Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 35867418: 35867418
206 IL7R NM_002185.4(IL7R): c.1180G> A (p.Gly394Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 35876286: 35876286
207 IL7R NM_002185.4(IL7R): c.1180G> A (p.Gly394Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 35876388: 35876388
208 IL7R NM_002185.4(IL7R): c.83-1G> A single nucleotide variant Likely pathogenic GRCh37 Chromosome 5, 35860953: 35860953
209 IL7R NM_002185.4(IL7R): c.83-1G> A single nucleotide variant Likely pathogenic GRCh38 Chromosome 5, 35860851: 35860851
210 IL7R NM_002185.4(IL7R): c.433G> A (p.Asp145Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 35871109: 35871109
211 IL7R NM_002185.4(IL7R): c.433G> A (p.Asp145Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 35871211: 35871211
212 IL7R NM_002185.4(IL7R): c.600G> A (p.Met200Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 35873644: 35873644
213 IL7R NM_002185.4(IL7R): c.600G> A (p.Met200Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 35873542: 35873542
214 IL7R NM_002185.4(IL7R): c.1043A> G (p.Asn348Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 35876251: 35876251
215 IL7R NM_002185.4(IL7R): c.1043A> G (p.Asn348Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 35876149: 35876149
216 IL7R NM_002185.4(IL7R): c.1130G> T (p.Cys377Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 35876338: 35876338
217 IL7R NM_002185.4(IL7R): c.1130G> T (p.Cys377Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 35876236: 35876236
218 IL7R NM_002185.4(IL7R): c.704C> G (p.Ser235Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 35873748: 35873748
219 IL7R NM_002185.4(IL7R): c.704C> G (p.Ser235Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 35873646: 35873646
220 IL7R NM_002185.4(IL7R): c.706+3A> G single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 35873651: 35873651
221 IL7R NM_002185.4(IL7R): c.706+3A> G single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 35873753: 35873753
222 IL7R NM_002185.5(IL7R): c.134A> C (p.Gln45Pro) single nucleotide variant no interpretation for the single variant GRCh38 Chromosome 5, 35860903: 35860903
223 IL7R NM_002185.5(IL7R): c.134A> C (p.Gln45Pro) single nucleotide variant no interpretation for the single variant GRCh37 Chromosome 5, 35861005: 35861005
224 IL7R NM_002185.5(IL7R): c.160T> C (p.Ser54Pro) single nucleotide variant no interpretation for the single variant GRCh38 Chromosome 5, 35860929: 35860929
225 IL7R NM_002185.5(IL7R): c.160T> C (p.Ser54Pro) single nucleotide variant no interpretation for the single variant GRCh37 Chromosome 5, 35861031: 35861031
226 IL7R NM_002185.5(IL7R): c.245G> T (p.Cys82Phe) single nucleotide variant no interpretation for the single variant rs757797163 GRCh38 Chromosome 5, 35867329: 35867329
227 IL7R NM_002185.5(IL7R): c.245G> T (p.Cys82Phe) single nucleotide variant no interpretation for the single variant rs757797163 GRCh37 Chromosome 5, 35867431: 35867431
228 IL7R NM_002185.5(IL7R): c.537+1G> A single nucleotide variant no interpretation for the single variant rs777878144 GRCh38 Chromosome 5, 35871214: 35871214
229 IL7R NM_002185.5(IL7R): c.537+1G> A single nucleotide variant no interpretation for the single variant rs777878144 GRCh37 Chromosome 5, 35871316: 35871316
230 PTPRC NM_002838.5(PTPRC): c.2142+7A> G single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 198701692: 198701692
231 PTPRC NM_002838.5(PTPRC): c.2142+7A> G single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 198732563: 198732563

Expression for Severe Combined Immunodeficiency, Autosomal Recessive, T...

Search GEO for disease gene expression data for Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive.

Pathways for Severe Combined Immunodeficiency, Autosomal Recessive, T...

Pathways related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive according to GeneCards Suite gene sharing:

(showing 16, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.09 CD3D PTPRC
2
Show member pathways
11.92 IL7R PTPRC
3
Show member pathways
11.92 CD3D PTPRC
4
Show member pathways
11.87 CD3D PTPRC
5
Show member pathways
11.84 CD3D PTPRC
6 11.52 IL7R PTPRC
7
Show member pathways
11.47 CD3D PTPRC
8
Show member pathways
11.44 CD3D PTPRC
9 11.42 IL7R PTPRC
10 11.35 CD3D IL7R
11 11.22 IL7R PTPRC
12 11.14 CD3D PTPRC
13 11.1 CD3D PTPRC
14 11.02 IL7R PTPRC
15 10.68 IL7R PTPRC
16 10.37 CD3D IL7R PTPRC

GO Terms for Severe Combined Immunodeficiency, Autosomal Recessive, T...

Cellular components related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 clathrin-coated vesicle membrane GO:0030665 8.96 CD3D IL7R
2 external side of plasma membrane GO:0009897 8.8 CD3D IL7R PTPRC

Biological processes related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive according to GeneCards Suite gene sharing:

(showing 7, show less)
# Name GO ID Score Top Affiliating Genes
1 cell surface receptor signaling pathway GO:0007166 9.43 CD3D IL7R PTPRC
2 membrane organization GO:0061024 9.4 CD3D IL7R
3 T cell receptor signaling pathway GO:0050852 9.37 CD3D PTPRC
4 B cell proliferation GO:0042100 9.32 IL7R PTPRC
5 positive thymic T cell selection GO:0045059 9.16 CD3D PTPRC
6 negative regulation of T cell mediated cytotoxicity GO:0001915 8.96 IL7R PTPRC
7 T cell differentiation GO:0030217 8.8 CD3D IL7R PTPRC

Sources for Severe Combined Immunodeficiency, Autosomal Recessive, T...

3 CDC
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9 Cosmic
10 dbSNP
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