MCID: SVR011
MIFTS: 6

Severe Combined Immunodeficiency, Atypical

Categories: Rare diseases, Immune diseases

Aliases & Classifications for Severe Combined Immunodeficiency, Atypical

MalaCards integrated aliases for Severe Combined Immunodeficiency, Atypical:

Name: Severe Combined Immunodeficiency, Atypical 53 29 6
Scid, Atypical 53

Classifications:



Summaries for Severe Combined Immunodeficiency, Atypical

MalaCards based summary : Severe Combined Immunodeficiency, Atypical, is also known as scid, atypical. An important gene associated with Severe Combined Immunodeficiency, Atypical is ZAP70 (Zeta Chain Of T Cell Receptor Associated Protein Kinase 70).

Related Diseases for Severe Combined Immunodeficiency, Atypical

Symptoms & Phenotypes for Severe Combined Immunodeficiency, Atypical

Drugs & Therapeutics for Severe Combined Immunodeficiency, Atypical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Generalized Neonatal Screening of Severe Combined Immunodeficiencies Active, not recruiting NCT02244450 Not Applicable

Search NIH Clinical Center for Severe Combined Immunodeficiency, Atypical

Genetic Tests for Severe Combined Immunodeficiency, Atypical

Genetic tests related to Severe Combined Immunodeficiency, Atypical:

# Genetic test Affiliating Genes
1 Severe Combined Immunodeficiency, Atypical 29 ZAP70

Anatomical Context for Severe Combined Immunodeficiency, Atypical

Publications for Severe Combined Immunodeficiency, Atypical

Variations for Severe Combined Immunodeficiency, Atypical

ClinVar genetic disease variations for Severe Combined Immunodeficiency, Atypical:

6
(show all 50)
# Gene Variation Type Significance SNP ID Assembly Location
1 ZAP70 NM_001079.3(ZAP70): c.1624-11G> A single nucleotide variant Pathogenic rs730880318 GRCh38 Chromosome 2, 97737984: 97737984
2 ZAP70 NM_001079.3(ZAP70): c.1624-11G> A single nucleotide variant Pathogenic rs730880318 GRCh37 Chromosome 2, 98354447: 98354447
3 ZAP70 NM_001079.3(ZAP70): c.1554C> A (p.Ser518Arg) single nucleotide variant Pathogenic rs104893674 GRCh37 Chromosome 2, 98354291: 98354291
4 ZAP70 NM_001079.3(ZAP70): c.1554C> A (p.Ser518Arg) single nucleotide variant Pathogenic rs104893674 GRCh38 Chromosome 2, 97737828: 97737828
5 ZAP70 NM_001079.3(ZAP70): c.1510_1522delAAGTGGTACGCAC (p.Lys504Profs) deletion Pathogenic rs730880319 GRCh38 Chromosome 2, 97737784: 97737796
6 ZAP70 NM_001079.3(ZAP70): c.1510_1522delAAGTGGTACGCAC (p.Lys504Profs) deletion Pathogenic rs730880319 GRCh37 Chromosome 2, 98354247: 98354259
7 ZAP70 NM_001079.3(ZAP70): c.1394G> A (p.Arg465His) single nucleotide variant Pathogenic rs137853201 GRCh37 Chromosome 2, 98354040: 98354040
8 ZAP70 NM_001079.3(ZAP70): c.1394G> A (p.Arg465His) single nucleotide variant Pathogenic rs137853201 GRCh38 Chromosome 2, 97737577: 97737577
9 ZAP70 NM_001079.3(ZAP70): c.1393C> T (p.Arg465Cys) single nucleotide variant Pathogenic rs113994174 GRCh37 Chromosome 2, 98354039: 98354039
10 ZAP70 NM_001079.3(ZAP70): c.1393C> T (p.Arg465Cys) single nucleotide variant Pathogenic rs113994174 GRCh38 Chromosome 2, 97737576: 97737576
11 ZAP70 NM_001079.3(ZAP70): c.837+121G> A single nucleotide variant Pathogenic rs113994173 GRCh37 Chromosome 2, 98349927: 98349927
12 ZAP70 NM_001079.3(ZAP70): c.837+121G> A single nucleotide variant Pathogenic rs113994173 GRCh38 Chromosome 2, 97733464: 97733464
13 ZAP70 NM_001079.3(ZAP70): c.447G> A (p.Val149=) single nucleotide variant Conflicting interpretations of pathogenicity rs61735392 GRCh38 Chromosome 2, 97725136: 97725136
14 ZAP70 NM_001079.3(ZAP70): c.447G> A (p.Val149=) single nucleotide variant Conflicting interpretations of pathogenicity rs61735392 GRCh37 Chromosome 2, 98341599: 98341599
15 ZAP70 NM_001079.3(ZAP70): c.672C> T (p.Pro224=) single nucleotide variant Benign/Likely benign rs56340622 GRCh37 Chromosome 2, 98349454: 98349454
16 ZAP70 NM_001079.3(ZAP70): c.672C> T (p.Pro224=) single nucleotide variant Benign/Likely benign rs56340622 GRCh38 Chromosome 2, 97732991: 97732991
17 ZAP70 NM_001079.3(ZAP70): c.1025T> C (p.Ile342Thr) single nucleotide variant Uncertain significance rs142702703 GRCh37 Chromosome 2, 98351118: 98351118
18 ZAP70 NM_001079.3(ZAP70): c.1025T> C (p.Ile342Thr) single nucleotide variant Uncertain significance rs142702703 GRCh38 Chromosome 2, 97734655: 97734655
19 ZAP70 NM_001079.3(ZAP70): c.1737-3C> T single nucleotide variant Uncertain significance rs56249179 GRCh37 Chromosome 2, 98355835: 98355835
20 ZAP70 NM_001079.3(ZAP70): c.1737-3C> T single nucleotide variant Uncertain significance rs56249179 GRCh38 Chromosome 2, 97739372: 97739372
21 ZAP70 NM_001079.3(ZAP70): c.105G> A (p.Leu35=) single nucleotide variant Benign/Likely benign rs56127120 GRCh38 Chromosome 2, 97724141: 97724141
22 ZAP70 NM_001079.3(ZAP70): c.105G> A (p.Leu35=) single nucleotide variant Benign/Likely benign rs56127120 GRCh37 Chromosome 2, 98340604: 98340604
23 ZAP70 NM_001079.3(ZAP70): c.1467C> T (p.Asp489=) single nucleotide variant Benign/Likely benign rs55997284 GRCh37 Chromosome 2, 98354113: 98354113
24 ZAP70 NM_001079.3(ZAP70): c.1467C> T (p.Asp489=) single nucleotide variant Benign/Likely benign rs55997284 GRCh38 Chromosome 2, 97737650: 97737650
25 ZAP70 NM_001079.3(ZAP70): c.1656C> T (p.Ile552=) single nucleotide variant Likely benign rs150096962 GRCh38 Chromosome 2, 97738027: 97738027
26 ZAP70 NM_001079.3(ZAP70): c.1656C> T (p.Ile552=) single nucleotide variant Likely benign rs150096962 GRCh37 Chromosome 2, 98354490: 98354490
27 ZAP70 NM_001079.3(ZAP70): c.531T> C (p.Leu177=) single nucleotide variant Benign rs115846138 GRCh38 Chromosome 2, 97725220: 97725220
28 ZAP70 NM_001079.3(ZAP70): c.531T> C (p.Leu177=) single nucleotide variant Benign rs115846138 GRCh37 Chromosome 2, 98341683: 98341683
29 ZAP70 NM_001079.3(ZAP70): c.786C> T (p.Ala262=) single nucleotide variant Likely benign rs916598301 GRCh38 Chromosome 2, 97733208: 97733208
30 ZAP70 NM_001079.3(ZAP70): c.786C> T (p.Ala262=) single nucleotide variant Likely benign rs916598301 GRCh37 Chromosome 2, 98349671: 98349671
31 ZAP70 NM_001079.3(ZAP70): c.1082+8C> T single nucleotide variant Benign rs55933862 GRCh37 Chromosome 2, 98351183: 98351183
32 ZAP70 NM_001079.3(ZAP70): c.1082+8C> T single nucleotide variant Benign rs55933862 GRCh38 Chromosome 2, 97734720: 97734720
33 ZAP70 NM_001079.3(ZAP70): c.7G> C (p.Asp3His) single nucleotide variant Uncertain significance rs1009114725 GRCh37 Chromosome 2, 98340506: 98340506
34 ZAP70 NM_001079.3(ZAP70): c.7G> C (p.Asp3His) single nucleotide variant Uncertain significance rs1009114725 GRCh38 Chromosome 2, 97724043: 97724043
35 ZAP70 NM_001079.3(ZAP70): c.594C> T (p.Tyr198=) single nucleotide variant Likely benign rs144360023 GRCh37 Chromosome 2, 98349376: 98349376
36 ZAP70 NM_001079.3(ZAP70): c.594C> T (p.Tyr198=) single nucleotide variant Likely benign rs144360023 GRCh38 Chromosome 2, 97732913: 97732913
37 ZAP70 NM_001079.3(ZAP70): c.464C> T (p.Thr155Met) single nucleotide variant Benign rs145955907 GRCh37 Chromosome 2, 98341616: 98341616
38 ZAP70 NM_001079.3(ZAP70): c.464C> T (p.Thr155Met) single nucleotide variant Benign rs145955907 GRCh38 Chromosome 2, 97725153: 97725153
39 ZAP70 NM_001079.3(ZAP70): c.1722C> T (p.Asp574=) single nucleotide variant Likely benign rs199831214 GRCh37 Chromosome 2, 98354556: 98354556
40 ZAP70 NM_001079.3(ZAP70): c.1722C> T (p.Asp574=) single nucleotide variant Likely benign rs199831214 GRCh38 Chromosome 2, 97738093: 97738093
41 ZAP70 NM_001079.3(ZAP70): c.1289+4A> G single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 97735460: 97735460
42 ZAP70 NM_001079.3(ZAP70): c.1289+4A> G single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 98351923: 98351923
43 ZAP70 NM_001079.3(ZAP70): c.1623+7G> A single nucleotide variant Benign rs56065241 GRCh37 Chromosome 2, 98354367: 98354367
44 ZAP70 NM_001079.3(ZAP70): c.1623+7G> A single nucleotide variant Benign rs56065241 GRCh38 Chromosome 2, 97737904: 97737904
45 ZAP70 NM_001079.3(ZAP70): c.1638G> A (p.Pro546=) single nucleotide variant Benign rs115143372 GRCh38 Chromosome 2, 97738009: 97738009
46 ZAP70 NM_001079.3(ZAP70): c.1638G> A (p.Pro546=) single nucleotide variant Benign rs115143372 GRCh37 Chromosome 2, 98354472: 98354472
47 ZAP70 NM_001079.3(ZAP70): c.1289+10G> A single nucleotide variant Benign rs200538234 GRCh37 Chromosome 2, 98351929: 98351929
48 ZAP70 NM_001079.3(ZAP70): c.1289+10G> A single nucleotide variant Benign rs200538234 GRCh38 Chromosome 2, 97735466: 97735466
49 ZAP70 NM_001079.3(ZAP70): c.1415G> A (p.Arg472Gln) single nucleotide variant Uncertain significance rs758807149 GRCh37 Chromosome 2, 98354061: 98354061
50 ZAP70 NM_001079.3(ZAP70): c.1415G> A (p.Arg472Gln) single nucleotide variant Uncertain significance rs758807149 GRCh38 Chromosome 2, 97737598: 97737598

Expression for Severe Combined Immunodeficiency, Atypical

Search GEO for disease gene expression data for Severe Combined Immunodeficiency, Atypical.

Pathways for Severe Combined Immunodeficiency, Atypical

GO Terms for Severe Combined Immunodeficiency, Atypical

Sources for Severe Combined Immunodeficiency, Atypical

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