IMD31A
MCID: IMM182
MIFTS: 27

Immunodeficiency 31a (IMD31A)

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

Aliases & Classifications for Immunodeficiency 31a

MalaCards integrated aliases for Immunodeficiency 31a:

Name: Immunodeficiency 31a 57 12 72 29 6 70
Imd31a 57 12 72
Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Signal Transducer and Activator of Transcription 1 Deficiency 12 58
Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Stat1 Deficiency 12 58
Msmd Due to Partial Signal Transducer and Activator of Transcription 1 Deficiency 12 58
Immunodeficiency 31a, Mycobacteriosis, Autosomal Dominant 57 72
Stat1 Deficiency, Autosomal Dominant 57 72
Msmd Due to Partial Stat1 Deficiency 12 58
Immunodeficiency, Type 31a, Mycobacteriosis, Autosomal Dominant 39
Autosomal Dominant Immunodeficiency 31a, Mycobacteriosis 12

Characteristics:

Orphanet epidemiological data:

58
mendelian susceptibility to mycobacterial diseases due to partial stat1 deficiency
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
incomplete penetrance
onset in early childhood
infections may be triggered by bcg vaccination

Inheritance:
autosomal dominant


HPO:

31
immunodeficiency 31a:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0111945
OMIM® 57 614892
OMIM Phenotypic Series 57 PS300755
ICD10 via Orphanet 33 D84.8
Orphanet 58 ORPHA319595
SNOMED-CT via HPO 68 234532001 263681008 428638009
UMLS 70 C4013950

Summaries for Immunodeficiency 31a

UniProtKB/Swiss-Prot : 72 Immunodeficiency 31A: A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. IMD31A has low penetrance, and affected individuals have relatively mild disease and good prognosis. IMD31A confers a predisposition to mycobacterial infections only, with no increased susceptibility to viral infections.

MalaCards based summary : Immunodeficiency 31a, is also known as imd31a. An important gene associated with Immunodeficiency 31a is STAT1 (Signal Transducer And Activator Of Transcription 1). Related phenotypes are immunodeficiency and herpes simplex encephalitis

Disease Ontology : 12 A primary immunodeficiency disease characterized by impaired response to IFNG but not to INFA or IFNB resulting in increased susceptibility to mycobacterial infection that has material basis in heterozygous mutation in STAT1 on chromosome 2q32.2.

OMIM® : 57 IMD31A results from autosomal dominant (AD) STAT1 deficiency. STAT1 is crucial for cellular responses to IFNA (147660)/IFNB (147640) (type I interferon) and IFNG (147570) (type III interferon). AD STAT1 deficiency selectively affects the IFNG pathway, but not the IFNA/IFNB pathway, and confers a predisposition to mycobacterial infections. Pathogens reported in IMD31A patients include bacillus Calmette-Guerin (BCG) and Mycobacterium avium complex, as well as Mycobacterium tuberculosis. IMD31A has low penetrance and a mild clinical phenotype with good prognosis for recovery (review by Al-Muhsen and Casanova, 2008). Two patients with heterozygous STAT1 mutations have been reported with increased susceptibility to adult-onset herpes simplex encephalitis (HSE) without a history of other significant infections (Mork et al., 2015). (614892) (Updated 20-May-2021)

Related Diseases for Immunodeficiency 31a

Symptoms & Phenotypes for Immunodeficiency 31a

Human phenotypes related to Immunodeficiency 31a:

31 (showing 2, show less)
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 31 HP:0002721
2 herpes simplex encephalitis 31 HP:0012302

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
herpes simplex encephalitis

Laboratory Abnormalities:
poor immunologic response to gamma-interferon

Immunology:
increased susceptibility to disseminated mycobacterial infections
increased susceptibility to herpes simplex encephalitis

Clinical features from OMIM®:

614892 (Updated 20-May-2021)

Drugs & Therapeutics for Immunodeficiency 31a

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 31a

Genetic Tests for Immunodeficiency 31a

Genetic tests related to Immunodeficiency 31a:

# Genetic test Affiliating Genes
1 Immunodeficiency 31a 29 STAT1

Anatomical Context for Immunodeficiency 31a

Publications for Immunodeficiency 31a

Articles related to Immunodeficiency 31a:

(showing 33, show less)
# Title Authors PMID Year
1
Mutations in the TLR3 signaling pathway and beyond in adult patients with herpes simplex encephalitis. 57 6
26513235 2015
2
Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease. 57 6
22573496 2012
3
Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation. 57 6
11452125 2001
4
Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations. 6
29111217 2018
5
Oesophageal candidiasis and squamous cell cancer in patients with gain-of-function STAT1 gene mutation. 6
28815025 2017
6
A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis. 6
28597685 2017
7
Autosomal dominant gain of function STAT1 mutation and severe bronchiectasis. 6
28427548 2017
8
Gain-of-function STAT1 mutations are associated with intracranial aneurysms. 6
28161409 2017
9
Molecular mechanism and structural basis of gain-of-function of STAT1 caused by pathogenic R274Q mutation. 6
28258222 2017
10
New and recurrent STAT1 mutations in seven Chinese patients with chronic mucocutaneous candidiasis. 6
27808400 2017
11
Severe Early-Onset Combined Immunodeficiency due to Heterozygous Gain-of-Function Mutations in STAT1. 6
27379765 2016
12
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. 6
27114460 2016
13
Progressive Multifocal Leukoencephalopathy in Primary Immune Deficiencies: Stat1 Gain of Function and Review of the Literature. 6
26743090 2016
14
Extrapulmonary tuberculosis mimicking Mendelian susceptibility to mycobacterial disease in a patient with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation. 6
26242301 2016
15
The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1. 6
26604104 2016
16
A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis. 6
26494717 2015
17
Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC). 6
26255980 2015
18
Orf Infection in a Patient with Stat1 Gain-of-Function. 6
25367169 2015
19
Gain-of-function mutations in signal transducer and activator of transcription 1 (STAT1): chronic mucocutaneous candidiasis accompanied by enamel defects and delayed dental shedding. 6
25042743 2014
20
Clinical exome sequencing for genetic identification of rare Mendelian disorders. 6
25326637 2014
21
Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis. 6
24343863 2014
22
Penicillium marneffei infection and impaired IFN-γ immunity in humans with autosomal-dominant gain-of-phosphorylation STAT1 mutations. 6
24188975 2014
23
Fatal combined immunodeficiency associated with heterozygous mutation in STAT1. 6
24239102 2014
24
New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe. 6
23709754 2013
25
Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome. 6
23534974 2013
26
Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis. 6
23541320 2013
27
Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism. 6
22847544 2012
28
Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain. 6
22730530 2012
29
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. 6
21727188 2011
30
STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. 6
21714643 2011
31
STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis. 6
22195034 2011
32
The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases. 57
19084105 2008
33
Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease. 6
16934001 2006

Variations for Immunodeficiency 31a

ClinVar genetic disease variations for Immunodeficiency 31a:

6 (showing 203, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 STAT1 NM_007315.3(STAT1):c.2117T>C (p.Leu706Ser) SNV Pathogenic 9043 rs137852677 GRCh37: 2:191840556-191840556
GRCh38: 2:190975830-190975830
2 STAT1 NM_007315.3(STAT1):c.1389G>T (p.Gln463His) SNV Pathogenic 9046 rs137852679 GRCh37: 2:191848425-191848425
GRCh38: 2:190983699-190983699
3 STAT1 NM_007315.3(STAT1):c.958G>C (p.Glu320Gln) SNV Pathogenic 9047 rs137852680 GRCh37: 2:191856033-191856033
GRCh38: 2:190991307-190991307
4 STAT1 NM_007315.3(STAT1):c.866A>G (p.Tyr289Cys) SNV Pathogenic 541825 rs1553496850 GRCh37: 2:191859865-191859865
GRCh38: 2:190995139-190995139
5 STAT1 NM_007315.3(STAT1):c.800C>T (p.Ala267Val) SNV Pathogenic 30084 rs387906759 GRCh37: 2:191859931-191859931
GRCh38: 2:190995205-190995205
6 STAT1 NM_007315.3(STAT1):c.820C>T (p.Arg274Trp) SNV Pathogenic 30083 rs387906758 GRCh37: 2:191859911-191859911
GRCh38: 2:190995185-190995185
7 STAT1 NM_007315.3(STAT1):c.1154C>T (p.Thr385Met) SNV Pathogenic 144006 rs587777630 GRCh37: 2:191851647-191851647
GRCh38: 2:190986921-190986921
8 STAT1 NM_007315.3(STAT1):c.1909A>G (p.Lys637Glu) SNV Pathogenic 155908 rs587777705 GRCh37: 2:191841716-191841716
GRCh38: 2:190976990-190976990
9 STAT1 NM_007315.3(STAT1):c.2018A>G (p.Lys673Arg) SNV Pathogenic 155907 rs587777704 GRCh37: 2:191841607-191841607
GRCh38: 2:190976881-190976881
10 STAT1 NM_007315.3(STAT1):c.821G>A (p.Arg274Gln) SNV Pathogenic 30085 rs387906760 GRCh37: 2:191859910-191859910
GRCh38: 2:190995184-190995184
11 STAT1 NM_007315.4(STAT1):c.1011_1012del (p.Val339fs) Deletion Pathogenic 961842 GRCh37: 2:191855979-191855980
GRCh38: 2:190991253-190991254
12 STAT1 NM_007315.3(STAT1):c.800C>T (p.Ala267Val) SNV Pathogenic 30084 rs387906759 GRCh37: 2:191859931-191859931
GRCh38: 2:190995205-190995205
13 STAT1 NM_007315.4(STAT1):c.851A>G (p.Glu284Gly) SNV Likely pathogenic 965491 GRCh37: 2:191859880-191859880
GRCh38: 2:190995154-190995154
14 STAT1 NM_007315.4(STAT1):c.1310C>T (p.Thr437Ile) SNV Likely pathogenic 852805 GRCh37: 2:191849073-191849073
GRCh38: 2:190984347-190984347
15 STAT1 NM_007315.4(STAT1):c.856A>C (p.Lys286Gln) SNV Likely pathogenic 848283 GRCh37: 2:191859875-191859875
GRCh38: 2:190995149-190995149
16 STAT1 NM_007315.4(STAT1):c.863C>T (p.Thr288Ile) SNV Likely pathogenic 848760 GRCh37: 2:191859868-191859868
GRCh38: 2:190995142-190995142
17 STAT1 NM_007315.4(STAT1):c.1166T>G (p.Val389Gly) SNV Likely pathogenic 860546 GRCh37: 2:191851635-191851635
GRCh38: 2:190986909-190986909
18 STAT1 NM_007315.3(STAT1):c.876C>A (p.Asp292Glu) SNV Likely pathogenic 426484 rs1085307649 GRCh37: 2:191859855-191859855
GRCh38: 2:190995129-190995129
19 STAT1 NM_007315.3(STAT1):c.970T>C (p.Cys324Arg) SNV Likely pathogenic 643417 rs1574653439 GRCh37: 2:191856021-191856021
GRCh38: 2:190991295-190991295
20 STAT1 NM_007315.3(STAT1):c.1162A>C (p.Lys388Gln) SNV Likely pathogenic 578600 rs1559011859 GRCh37: 2:191851639-191851639
GRCh38: 2:190986913-190986913
21 STAT1 NM_007315.3(STAT1):c.820C>G (p.Arg274Gly) SNV Likely pathogenic 160354 rs387906758 GRCh37: 2:191859911-191859911
GRCh38: 2:190995185-190995185
22 STAT1 NM_007315.3(STAT1):c.1222-5T>C SNV Conflicting interpretations of pathogenicity 252674 rs191364028 GRCh37: 2:191850391-191850391
GRCh38: 2:190985665-190985665
23 STAT1 NM_007315.3(STAT1):c.633+6T>A SNV Conflicting interpretations of pathogenicity 333289 rs45459703 GRCh37: 2:191862937-191862937
GRCh38: 2:190998211-190998211
24 STAT1 NM_007315.3(STAT1):c.1727+13G>A SNV Conflicting interpretations of pathogenicity 333267 rs377146580 GRCh37: 2:191844485-191844485
GRCh38: 2:190979759-190979759
25 STAT1 NM_007315.3(STAT1):c.796G>A (p.Val266Ile) SNV Conflicting interpretations of pathogenicity 333285 rs41473544 GRCh37: 2:191859935-191859935
GRCh38: 2:190995209-190995209
26 STAT1 NM_007315.4(STAT1):c.18A>C (p.Glu6Asp) SNV Uncertain significance 898669 GRCh37: 2:191874712-191874712
GRCh38: 2:191009986-191009986
27 STAT1 NM_007315.4(STAT1):c.2059+5G>A SNV Uncertain significance 1042523 GRCh37: 2:191841561-191841561
GRCh38: 2:190976835-190976835
28 STAT1 NM_007315.4(STAT1):c.1619C>T (p.Thr540Met) SNV Uncertain significance 1046569 GRCh37: 2:191845359-191845359
GRCh38: 2:190980633-190980633
29 STAT1 NM_007315.4(STAT1):c.274-3T>C SNV Uncertain significance 1062471 GRCh37: 2:191872390-191872390
GRCh38: 2:191007664-191007664
30 STAT1 NC_000002.12:g.(?_190970683)_(190970737_?)dup Duplication Uncertain significance 832334 GRCh37: 2:191835409-191835463
GRCh38:
31 STAT1 NM_007315.4(STAT1):c.*645T>G SNV Uncertain significance 895560 GRCh37: 2:191834784-191834784
GRCh38: 2:190970058-190970058
32 STAT1 NM_007315.4(STAT1):c.*461G>A SNV Uncertain significance 895561 GRCh37: 2:191834968-191834968
GRCh38: 2:190970242-190970242
33 STAT1 NM_007315.4(STAT1):c.68A>T (p.Asp23Val) SNV Uncertain significance 965789 GRCh37: 2:191874662-191874662
GRCh38: 2:191009936-191009936
34 STAT1 NM_007315.4(STAT1):c.623A>G (p.Asn208Ser) SNV Uncertain significance 965794 GRCh37: 2:191862953-191862953
GRCh38: 2:190998227-190998227
35 STAT1 NM_007315.4(STAT1):c.1263+4A>G SNV Uncertain significance 966259 GRCh37: 2:191850341-191850341
GRCh38: 2:190985615-190985615
36 STAT1 NM_007315.4(STAT1):c.1117A>T (p.Thr373Ser) SNV Uncertain significance 968726 GRCh37: 2:191851775-191851775
GRCh38: 2:190987049-190987049
37 STAT1 NM_007315.4(STAT1):c.1949A>G (p.Asn650Ser) SNV Uncertain significance 968958 GRCh37: 2:191841676-191841676
GRCh38: 2:190976950-190976950
38 STAT1 NM_007315.4(STAT1):c.541+6G>C SNV Uncertain significance 998635 GRCh37: 2:191864346-191864346
GRCh38: 2:190999620-190999620
39 STAT1 NM_007315.4(STAT1):c.1276G>A (p.Val426Ile) SNV Uncertain significance 1013684 GRCh37: 2:191849107-191849107
GRCh38: 2:190984381-190984381
40 STAT1 NM_007315.4(STAT1):c.1202C>A (p.Ala401Glu) SNV Uncertain significance 1017833 GRCh37: 2:191851599-191851599
GRCh38: 2:190986873-190986873
41 STAT1 NM_007315.4(STAT1):c.877_891del (p.Pro293_Asn297del) Deletion Uncertain significance 1017838 GRCh37: 2:191859840-191859854
GRCh38: 2:190995114-190995128
42 STAT1 NM_007315.4(STAT1):c.1632+5G>A SNV Uncertain significance 1019127 GRCh37: 2:191845341-191845341
GRCh38: 2:190980615-190980615
43 STAT1 NM_007315.4(STAT1):c.976C>T (p.Pro326Ser) SNV Uncertain significance 1019308 GRCh37: 2:191856015-191856015
GRCh38: 2:190991289-190991289
44 STAT1 NM_007315.3(STAT1):c.1341C>A (p.Asp447Glu) SNV Uncertain significance 333273 rs140351189 GRCh37: 2:191849042-191849042
GRCh38: 2:190984316-190984316
45 STAT1 NM_007315.4(STAT1):c.1221+6G>T SNV Uncertain significance 1023104 GRCh37: 2:191851574-191851574
GRCh38: 2:190986848-190986848
46 STAT1 NM_007315.4(STAT1):c.167G>A (p.Arg56His) SNV Uncertain significance 1029155 GRCh37: 2:191873795-191873795
GRCh38: 2:191009069-191009069
47 STAT1 NM_007315.3(STAT1):c.478A>C (p.Ile160Leu) SNV Uncertain significance 648892 rs371548986 GRCh37: 2:191864415-191864415
GRCh38: 2:190999689-190999689
48 STAT1 NM_007315.4(STAT1):c.-306T>G SNV Uncertain significance 895686 GRCh37: 2:191878894-191878894
GRCh38: 2:191014168-191014168
49 STAT1 NM_139266.2(STAT1):c.-368G>A SNV Uncertain significance 895687 GRCh37: 2:191878956-191878956
GRCh38: 2:191014230-191014230
50 STAT1 NM_007315.4(STAT1):c.*1514A>G SNV Uncertain significance 896885 GRCh37: 2:191833915-191833915
GRCh38: 2:190969189-190969189
51 STAT1 NM_007315.4(STAT1):c.*1482A>G SNV Uncertain significance 896886 GRCh37: 2:191833947-191833947
GRCh38: 2:190969221-190969221
52 STAT1 NM_007315.4(STAT1):c.*1317G>A SNV Uncertain significance 896887 GRCh37: 2:191834112-191834112
GRCh38: 2:190969386-190969386
53 STAT1 NM_007315.4(STAT1):c.*363A>G SNV Uncertain significance 896961 GRCh37: 2:191835066-191835066
GRCh38: 2:190970340-190970340
54 STAT1 NM_007315.4(STAT1):c.*281C>T SNV Uncertain significance 896962 GRCh37: 2:191835148-191835148
GRCh38: 2:190970422-190970422
55 STAT1 NM_007315.4(STAT1):c.*137T>C SNV Uncertain significance 896963 GRCh37: 2:191835292-191835292
GRCh38: 2:190970566-190970566
56 STAT1 NM_007315.4(STAT1):c.*121C>T SNV Uncertain significance 896964 GRCh37: 2:191835308-191835308
GRCh38: 2:190970582-190970582
57 STAT1 NM_007315.4(STAT1):c.-195G>A SNV Uncertain significance 898671 GRCh37: 2:191878783-191878783
GRCh38: 2:191014057-191014057
58 STAT1 NM_007315.4(STAT1):c.-268C>T SNV Uncertain significance 898672 GRCh37: 2:191878856-191878856
GRCh38: 2:191014130-191014130
59 STAT1 NM_007315.4(STAT1):c.389T>C (p.Ile130Thr) SNV Uncertain significance 937753 GRCh37: 2:191865873-191865873
GRCh38: 2:191001147-191001147
60 STAT1 NM_007315.3(STAT1):c.1090T>C (p.Phe364Leu) SNV Uncertain significance 333283 rs759722579 GRCh37: 2:191854348-191854348
GRCh38: 2:190989622-190989622
61 STAT1 NM_007315.4(STAT1):c.955G>A (p.Val319Met) SNV Uncertain significance 944892 GRCh37: 2:191856036-191856036
GRCh38: 2:190991310-190991310
62 STAT1 NM_007315.4(STAT1):c.1856G>A (p.Arg619Gln) SNV Uncertain significance 946599 GRCh37: 2:191843599-191843599
GRCh38: 2:190978873-190978873
63 STAT1 NM_007315.4(STAT1):c.1591G>A (p.Ala531Thr) SNV Uncertain significance 951668 GRCh37: 2:191845387-191845387
GRCh38: 2:190980661-190980661
64 STAT1 NM_007315.4(STAT1):c.2059+6_2059+7del Deletion Uncertain significance 955737 GRCh37: 2:191841559-191841560
GRCh38: 2:190976833-190976834
65 STAT1 NM_007315.4(STAT1):c.856A>G (p.Lys286Glu) SNV Uncertain significance 959111 GRCh37: 2:191859875-191859875
GRCh38: 2:190995149-190995149
66 STAT1 NM_007315.4(STAT1):c.989A>G (p.Gln330Arg) SNV Uncertain significance 960580 GRCh37: 2:191856002-191856002
GRCh38: 2:190991276-190991276
67 STAT1 NM_007315.3(STAT1):c.2087C>A (p.Pro696His) SNV Uncertain significance 632063 rs138723664 GRCh37: 2:191840586-191840586
GRCh38: 2:190975860-190975860
68 STAT1 NM_007315.3(STAT1):c.1297C>G (p.Leu433Val) SNV Uncertain significance 579737 rs1181214715 GRCh37: 2:191849086-191849086
GRCh38: 2:190984360-190984360
69 STAT1 NM_007315.3(STAT1):c.1757G>A (p.Arg586Gln) SNV Uncertain significance 580685 rs144788879 GRCh37: 2:191843698-191843698
GRCh38: 2:190978972-190978972
70 STAT1 NM_007315.3(STAT1):c.380C>T (p.Ser127Leu) SNV Uncertain significance 582688 rs768483703 GRCh37: 2:191865882-191865882
GRCh38: 2:191001156-191001156
71 STAT1 NM_007315.3(STAT1):c.1052T>G (p.Leu351Trp) SNV Uncertain significance 570250 rs1559013693 GRCh37: 2:191854386-191854386
GRCh38: 2:190989660-190989660
72 STAT1 NM_007315.3(STAT1):c.1632+6G>A SNV Uncertain significance 333271 rs185216067 GRCh37: 2:191845340-191845340
GRCh38: 2:190980614-190980614
73 STAT1 NM_007315.3(STAT1):c.1127+4C>T SNV Uncertain significance 474980 rs372508550 GRCh37: 2:191851761-191851761
GRCh38: 2:190987035-190987035
74 STAT1 NM_007315.3(STAT1):c.*932A>C SNV Uncertain significance 333253 rs886055375 GRCh37: 2:191834497-191834497
GRCh38: 2:190969771-190969771
75 STAT1 NM_007315.3(STAT1):c.*670T>G SNV Uncertain significance 333256 rs186033487 GRCh37: 2:191834759-191834759
GRCh38: 2:190970033-190970033
76 STAT1 NM_007315.3(STAT1):c.*921G>C SNV Uncertain significance 333254 rs886055376 GRCh37: 2:191834508-191834508
GRCh38: 2:190969782-190969782
77 STAT1 NM_007315.3(STAT1):c.-320C>T SNV Uncertain significance 333299 rs886055383 GRCh37: 2:191878908-191878908
GRCh38: 2:191014182-191014182
78 STAT1 NM_007315.3(STAT1):c.*1260A>G SNV Uncertain significance 333249 rs886055374 GRCh37: 2:191834169-191834169
GRCh38: 2:190969443-190969443
79 STAT1 NM_007315.3(STAT1):c.-293C>G SNV Uncertain significance 333297 rs886055382 GRCh37: 2:191878881-191878881
GRCh38: 2:191014155-191014155
80 STAT1 NM_007315.3(STAT1):c.*855G>A SNV Uncertain significance 333255 rs188557905 GRCh37: 2:191834574-191834574
GRCh38: 2:190969848-190969848
81 STAT1 NM_007315.3(STAT1):c.*362T>C SNV Uncertain significance 333261 rs886055377 GRCh37: 2:191835067-191835067
GRCh38: 2:190970341-190970341
82 STAT1 NM_007315.3(STAT1):c.*1473C>T SNV Uncertain significance 333247 rs755752702 GRCh37: 2:191833956-191833956
GRCh38: 2:190969230-190969230
83 STAT1 NM_007315.3(STAT1):c.-155-11T>A SNV Uncertain significance 333295 rs886055381 GRCh37: 2:191878415-191878415
GRCh38: 2:191013689-191013689
84 STAT1 NM_007315.3(STAT1):c.1248C>T (p.Gly416=) SNV Uncertain significance 333276 rs140787216 GRCh37: 2:191850360-191850360
GRCh38: 2:190985634-190985634
85 STAT1 NM_007315.3(STAT1):c.714G>A (p.Glu238=) SNV Uncertain significance 333287 rs886055380 GRCh37: 2:191862653-191862653
GRCh38: 2:190997927-190997927
86 STAT1 NM_007315.3(STAT1):c.1168A>G (p.Met390Val) SNV Uncertain significance 644852 rs1574648919 GRCh37: 2:191851633-191851633
GRCh38: 2:190986907-190986907
87 STAT1 NM_007315.3(STAT1):c.1347+3A>G SNV Uncertain significance 647392 rs1574645914 GRCh37: 2:191849033-191849033
GRCh38: 2:190984307-190984307
88 STAT1 NM_007315.3(STAT1):c.934C>T (p.Leu312Phe) SNV Uncertain significance 647487 rs1574657656 GRCh37: 2:191859797-191859797
GRCh38: 2:190995071-190995071
89 STAT1 NM_007315.3(STAT1):c.1675G>C (p.Glu559Gln) SNV Uncertain significance 648841 rs1574641583 GRCh37: 2:191844550-191844550
GRCh38: 2:190979824-190979824
90 STAT1 NM_007315.3(STAT1):c.478A>C (p.Ile160Leu) SNV Uncertain significance 648892 rs371548986 GRCh37: 2:191864415-191864415
GRCh38: 2:190999689-190999689
91 STAT1 NM_007315.3(STAT1):c.1256C>G (p.Thr419Arg) SNV Uncertain significance 650110 rs1347113886 GRCh37: 2:191850352-191850352
GRCh38: 2:190985626-190985626
92 STAT1 NM_007315.3(STAT1):c.1431G>A (p.Leu477=) SNV Uncertain significance 650605 rs1384090178 GRCh37: 2:191848383-191848383
GRCh38: 2:190983657-190983657
93 STAT1 NM_007315.3(STAT1):c.274-4C>G SNV Uncertain significance 333291 rs377209172 GRCh37: 2:191872391-191872391
GRCh38: 2:191007665-191007665
94 STAT1 NM_007315.3(STAT1):c.1629T>G (p.Cys543Trp) SNV Uncertain significance 652830 rs1574642464 GRCh37: 2:191845349-191845349
GRCh38: 2:190980623-190980623
95 STAT1 NM_007315.3(STAT1):c.1437G>A (p.Ala479=) SNV Uncertain significance 654622 rs377513599 GRCh37: 2:191848377-191848377
GRCh38: 2:190983651-190983651
96 STAT1 NM_007315.3(STAT1):c.945-5T>G SNV Uncertain significance 661527 rs1574653475 GRCh37: 2:191856051-191856051
GRCh38: 2:190991325-190991325
97 STAT1 NM_007315.3(STAT1):c.722G>A (p.Arg241Gln) SNV Uncertain significance 333286 rs146273341 GRCh37: 2:191862645-191862645
GRCh38: 2:190997919-190997919
98 STAT1 NM_007315.3(STAT1):c.193G>A (p.Asp65Asn) SNV Uncertain significance 663843 rs1574672739 GRCh37: 2:191873769-191873769
GRCh38: 2:191009043-191009043
99 STAT1 NM_007315.3(STAT1):c.1744A>G (p.Ile582Val) SNV Uncertain significance 642183 rs774306421 GRCh37: 2:191843711-191843711
GRCh38: 2:190978985-190978985
100 STAT1 NM_007315.3(STAT1):c.1765G>T (p.Ala589Ser) SNV Uncertain significance 424473 rs745491762 GRCh37: 2:191843690-191843690
GRCh38: 2:190978964-190978964
101 STAT1 NM_007315.3(STAT1):c.1683C>T (p.Ile561=) SNV Uncertain significance 333270 rs886055378 GRCh37: 2:191844542-191844542
GRCh38: 2:190979816-190979816
102 STAT1 NM_007315.3(STAT1):c.*1628A>G SNV Uncertain significance 333246 rs886055373 GRCh37: 2:191833801-191833801
GRCh38: 2:190969075-190969075
103 STAT1 NM_007315.3(STAT1):c.1222-3T>C SNV Uncertain significance 333277 rs886055379 GRCh37: 2:191850389-191850389
GRCh38: 2:190985663-190985663
104 STAT1 NM_007315.4(STAT1):c.595C>T (p.Leu199Phe) SNV Uncertain significance 837552 GRCh37: 2:191862981-191862981
GRCh38: 2:190998255-190998255
105 STAT1 NM_007315.4(STAT1):c.850G>A (p.Glu284Lys) SNV Uncertain significance 827741 rs1574657750 GRCh37: 2:191859881-191859881
GRCh38: 2:190995155-190995155
106 STAT1 NM_007315.4(STAT1):c.2201_2208del (p.Val734fs) Deletion Uncertain significance 839216 GRCh37: 2:191839586-191839593
GRCh38: 2:190974860-190974867
107 STAT1 NM_007315.4(STAT1):c.1053G>C (p.Leu351Phe) SNV Uncertain significance 840620 GRCh37: 2:191854385-191854385
GRCh38: 2:190989659-190989659
108 STAT1 NM_007315.4(STAT1):c.596T>C (p.Leu199Pro) SNV Uncertain significance 842244 GRCh37: 2:191862980-191862980
GRCh38: 2:190998254-190998254
109 STAT1 NM_007315.4(STAT1):c.246C>A (p.Asn82Lys) SNV Uncertain significance 842864 GRCh37: 2:191873716-191873716
GRCh38: 2:191008990-191008990
110 STAT1 NM_007315.4(STAT1):c.1886A>T (p.His629Leu) SNV Uncertain significance 843006 GRCh37: 2:191841739-191841739
GRCh38: 2:190977013-190977013
111 STAT1 NM_007315.4(STAT1):c.358C>G (p.Gln120Glu) SNV Uncertain significance 847774 GRCh37: 2:191872303-191872303
GRCh38: 2:191007577-191007577
112 STAT1 NM_007315.4(STAT1):c.1349C>T (p.Thr450Met) SNV Uncertain significance 854394 GRCh37: 2:191848465-191848465
GRCh38: 2:190983739-190983739
113 STAT1 NM_007315.4(STAT1):c.743T>C (p.Ile248Thr) SNV Uncertain significance 856465 GRCh37: 2:191862624-191862624
GRCh38: 2:190997898-190997898
114 STAT1 NM_007315.4(STAT1):c.1038-3C>T SNV Uncertain significance 856748 GRCh37: 2:191854403-191854403
GRCh38: 2:190989677-190989677
115 STAT1 NM_007315.4(STAT1):c.1363G>A (p.Val455Ile) SNV Uncertain significance 857074 GRCh37: 2:191848451-191848451
GRCh38: 2:190983725-190983725
116 STAT1 NM_007315.4(STAT1):c.1038A>C (p.Arg346Ser) SNV Uncertain significance 857689 GRCh37: 2:191854400-191854400
GRCh38: 2:190989674-190989674
117 STAT1 NM_007315.4(STAT1):c.629G>A (p.Arg210Lys) SNV Uncertain significance 859053 GRCh37: 2:191862947-191862947
GRCh38: 2:190998221-190998221
118 STAT1 NM_007315.4(STAT1):c.786-12G>C SNV Uncertain significance 897034 GRCh37: 2:191859957-191859957
GRCh38: 2:190995231-190995231
119 STAT1 NM_007315.4(STAT1):c.735C>T (p.Ser245=) SNV Uncertain significance 897035 GRCh37: 2:191862632-191862632
GRCh38: 2:190997906-190997906
120 STAT1 NM_007315.4(STAT1):c.*1298A>G SNV Uncertain significance 897386 GRCh37: 2:191834131-191834131
GRCh38: 2:190969405-190969405
121 STAT1 NM_007315.4(STAT1):c.*1187C>G SNV Uncertain significance 897387 GRCh37: 2:191834242-191834242
GRCh38: 2:190969516-190969516
122 STAT1 NM_007315.4(STAT1):c.*1175A>T SNV Uncertain significance 897388 GRCh37: 2:191834254-191834254
GRCh38: 2:190969528-190969528
123 STAT1 NM_007315.4(STAT1):c.*1163T>C SNV Uncertain significance 897389 GRCh37: 2:191834266-191834266
GRCh38: 2:190969540-190969540
124 STAT1 NM_007315.4(STAT1):c.*1154C>T SNV Uncertain significance 897390 GRCh37: 2:191834275-191834275
GRCh38: 2:190969549-190969549
125 STAT1 NM_007315.4(STAT1):c.*1094G>C SNV Uncertain significance 897391 GRCh37: 2:191834335-191834335
GRCh38: 2:190969609-190969609
126 STAT1 NM_007315.4(STAT1):c.*1066C>T SNV Uncertain significance 897392 GRCh37: 2:191834363-191834363
GRCh38: 2:190969637-190969637
127 STAT1 NM_007315.4(STAT1):c.1967C>T (p.Ala656Val) SNV Uncertain significance 897448 GRCh37: 2:191841658-191841658
GRCh38: 2:190976932-190976932
128 STAT1 NM_007315.4(STAT1):c.1713T>G (p.Pro571=) SNV Uncertain significance 897449 GRCh37: 2:191844512-191844512
GRCh38: 2:190979786-190979786
129 STAT1 NM_007315.4(STAT1):c.501A>G (p.Gln167=) SNV Uncertain significance 897516 GRCh37: 2:191864392-191864392
GRCh38: 2:190999666-190999666
130 STAT1 NM_007315.4(STAT1):c.372+13C>T SNV Uncertain significance 897517 GRCh37: 2:191872276-191872276
GRCh38: 2:191007550-191007550
131 STAT1 NM_007315.4(STAT1):c.201A>G (p.Gln67=) SNV Uncertain significance 712811 rs148148052 GRCh37: 2:191873761-191873761
GRCh38: 2:191009035-191009035
132 STAT1 NM_007315.4(STAT1):c.*1012A>G SNV Uncertain significance 898546 GRCh37: 2:191834417-191834417
GRCh38: 2:190969691-190969691
133 STAT1 NM_007315.4(STAT1):c.*959G>A SNV Uncertain significance 898547 GRCh37: 2:191834470-191834470
GRCh38: 2:190969744-190969744
134 STAT1 NM_007315.4(STAT1):c.1544A>G (p.Asn515Ser) SNV Likely benign 898612 GRCh37: 2:191847147-191847147
GRCh38: 2:190982421-190982421
135 STAT1 NM_007315.4(STAT1):c.463-4G>T SNV Likely benign 724034 rs367840028 GRCh37: 2:191864434-191864434
GRCh38: 2:190999708-190999708
136 STAT1 NM_007315.4(STAT1):c.463-6_463-3del Microsatellite Likely benign 733425 rs773775483 GRCh37: 2:191864433-191864436
GRCh38: 2:190999707-190999710
137 STAT1 NM_007315.3(STAT1):c.1127+10G>A SNV Likely benign 333280 rs140665796 GRCh37: 2:191851755-191851755
GRCh38: 2:190987029-190987029
138 STAT1 NM_007315.4(STAT1):c.1899C>T (p.Pro633=) SNV Likely benign 764077 rs141415212 GRCh37: 2:191841726-191841726
GRCh38: 2:190977000-190977000
139 STAT1 NM_007315.3(STAT1):c.*304A>T SNV Likely benign 333262 rs190542524 GRCh37: 2:191835125-191835125
GRCh38: 2:190970399-190970399
140 STAT1 NM_007315.3(STAT1):c.186A>G (p.Ser62=) SNV Likely benign 333292 rs146158319 GRCh37: 2:191873776-191873776
GRCh38: 2:191009050-191009050
141 STAT1 NM_007315.3(STAT1):c.274-4C>G SNV Likely benign 333291 rs377209172 GRCh37: 2:191872391-191872391
GRCh38: 2:191007665-191007665
142 STAT1 NM_007315.3(STAT1):c.1866C>T (p.Asn622=) SNV Likely benign 333266 rs112108750 GRCh37: 2:191843589-191843589
GRCh38: 2:190978863-190978863
143 STAT1 NM_007315.3(STAT1):c.1707G>A (p.Leu569=) SNV Likely benign 333269 rs199668489 GRCh37: 2:191844518-191844518
GRCh38: 2:190979792-190979792
144 STAT1 NM_007315.3(STAT1):c.*428G>C SNV Likely benign 333260 rs139958571 GRCh37: 2:191835001-191835001
GRCh38: 2:190970275-190970275
145 STAT1 NM_007315.3(STAT1):c.1155G>A (p.Thr385=) SNV Likely benign 333279 rs41270237 GRCh37: 2:191851646-191851646
GRCh38: 2:190986920-190986920
146 STAT1 NM_007315.3(STAT1):c.1341C>A (p.Asp447Glu) SNV Likely benign 333273 rs140351189 GRCh37: 2:191849042-191849042
GRCh38: 2:190984316-190984316
147 STAT1 NM_007315.3(STAT1):c.1059G>A (p.Glu353=) SNV Likely benign 541832 rs371279547 GRCh37: 2:191854379-191854379
GRCh38: 2:190989653-190989653
148 STAT1 NM_007315.3(STAT1):c.825G>A (p.Gln275=) SNV Likely benign 541829 rs61756197 GRCh37: 2:191859906-191859906
GRCh38: 2:190995180-190995180
149 STAT1 NM_007315.3(STAT1):c.1371G>A (p.Val457=) SNV Likely benign 541830 rs144704615 GRCh37: 2:191848443-191848443
GRCh38: 2:190983717-190983717
150 STAT1 NM_007315.3(STAT1):c.1866C>T (p.Asn622=) SNV Likely benign 333266 rs112108750 GRCh37: 2:191843589-191843589
GRCh38: 2:190978863-190978863
151 STAT1 NM_007315.3(STAT1):c.1263+7G>A SNV Likely benign 333275 rs56228116 GRCh37: 2:191850338-191850338
GRCh38: 2:190985612-190985612
152 STAT1 NM_007315.4(STAT1):c.1398C>T (p.Ser466=) SNV Likely benign 798129 rs763759889 GRCh37: 2:191848416-191848416
GRCh38: 2:190983690-190983690
153 STAT1 NM_007315.4(STAT1):c.-189C>G SNV Benign 898670 GRCh37: 2:191878777-191878777
GRCh38: 2:191014051-191014051
154 STAT1 NM_007315.3(STAT1):c.796G>A (p.Val266Ile) SNV Benign 333285 rs41473544 GRCh37: 2:191859935-191859935
GRCh38: 2:190995209-190995209
155 STAT1 NM_007315.4(STAT1):c.*777A>G SNV Benign 895559 GRCh37: 2:191834652-191834652
GRCh38: 2:190969926-190969926
156 STAT1 NM_007315.4(STAT1):c.*364G>C SNV Benign 895562 GRCh37: 2:191835065-191835065
GRCh38: 2:190970339-190970339
157 STAT1 NM_007315.3(STAT1):c.2136T>G (p.Val712=) SNV Benign 474982 rs35364817 GRCh37: 2:191839658-191839658
GRCh38: 2:190974932-190974932
158 STAT1 NM_007315.3(STAT1):c.825G>A (p.Gln275=) SNV Benign 541829 rs61756197 GRCh37: 2:191859906-191859906
GRCh38: 2:190995180-190995180
159 STAT1 NM_007315.3(STAT1):c.1098-12dup Duplication Benign 541831 rs200288904 GRCh37: 2:191851798-191851799
GRCh38: 2:190987072-190987073
160 STAT1 NM_007315.3(STAT1):c.1155G>A (p.Thr385=) SNV Benign 333279 rs41270237 GRCh37: 2:191851646-191851646
GRCh38: 2:190986920-190986920
161 STAT1 NM_007315.3(STAT1):c.2019A>G (p.Lys673=) SNV Benign 474981 rs35098579 GRCh37: 2:191841606-191841606
GRCh38: 2:190976880-190976880
162 STAT1 NM_007315.3(STAT1):c.1116T>C (p.Asn372=) SNV Benign 333281 rs55891000 GRCh37: 2:191851776-191851776
GRCh38: 2:190987050-190987050
163 STAT1 NM_007315.3(STAT1):c.2136T>G (p.Val712=) SNV Benign 474982 rs35364817 GRCh37: 2:191839658-191839658
GRCh38: 2:190974932-190974932
164 STAT1 NM_007315.3(STAT1):c.1097+10C>G SNV Benign 333282 rs41488044 GRCh37: 2:191854331-191854331
GRCh38: 2:190989605-190989605
165 STAT1 NM_007315.3(STAT1):c.990G>A (p.Gln330=) SNV Benign 333284 rs41509946 GRCh37: 2:191856001-191856001
GRCh38: 2:190991275-190991275
166 STAT1 NM_007315.3(STAT1):c.793A>G (p.Ile265Val) SNV Benign 541826 rs148775168 GRCh37: 2:191859938-191859938
GRCh38: 2:190995212-190995212
167 STAT1 NM_007315.3(STAT1):c.1257G>A (p.Thr419=) SNV Benign 541827 rs73979321 GRCh37: 2:191850351-191850351
GRCh38: 2:190985625-190985625
168 STAT1 NM_007315.3(STAT1):c.463-8G>C SNV Benign 541828 rs2066794 GRCh37: 2:191864438-191864438
GRCh38: 2:190999712-190999712
169 STAT1 NM_007315.3(STAT1):c.1872C>T (p.Gly624=) SNV Benign 333265 rs2230101 GRCh37: 2:191843583-191843583
GRCh38: 2:190978857-190978857
170 STAT1 NM_007315.3(STAT1):c.722G>A (p.Arg241Gln) SNV Benign 333286 rs146273341 GRCh37: 2:191862645-191862645
GRCh38: 2:190997919-190997919
171 STAT1 NM_007315.3(STAT1):c.*535C>T SNV Benign 333258 rs41476445 GRCh37: 2:191834894-191834894
GRCh38: 2:190970168-190970168
172 STAT1 NM_007315.3(STAT1):c.1874-8C>T SNV Benign 333264 rs2066804 GRCh37: 2:191841759-191841759
GRCh38: 2:190977033-190977033
173 STAT1 NM_007315.3(STAT1):c.1347+8T>G SNV Benign 333272 rs16833147 GRCh37: 2:191849028-191849028
GRCh38: 2:190984302-190984302
174 STAT1 NM_007315.3(STAT1):c.*942A>G SNV Benign 333252 rs41363648 GRCh37: 2:191834487-191834487
GRCh38: 2:190969761-190969761
175 STAT1 NM_007315.3(STAT1):c.-213C>T SNV Benign 333296 rs147950001 GRCh37: 2:191878801-191878801
GRCh38: 2:191014075-191014075
176 STAT1 NM_007315.3(STAT1):c.1097+10C>G SNV Benign 333282 rs41488044 GRCh37: 2:191854331-191854331
GRCh38: 2:190989605-190989605
177 STAT1 NM_007315.3(STAT1):c.1632+6G>A SNV Benign 333271 rs185216067 GRCh37: 2:191845340-191845340
GRCh38: 2:190980614-190980614
178 STAT1 NM_007315.3(STAT1):c.354C>T (p.Asn118=) SNV Benign 333290 rs45463799 GRCh37: 2:191872307-191872307
GRCh38: 2:191007581-191007581
179 STAT1 NM_007315.4(STAT1):c.63T>C (p.Leu21=) SNV Benign 333293 rs2066802 GRCh37: 2:191874667-191874667
GRCh38: 2:191009941-191009941
180 STAT1 NM_007315.3(STAT1):c.*1399A>G SNV Benign 333248 rs11305 GRCh37: 2:191834030-191834030
GRCh38: 2:190969304-190969304
181 STAT1 NM_007315.3(STAT1):c.*1002T>C SNV Benign 333251 rs562081130 GRCh37: 2:191834427-191834427
GRCh38: 2:190969701-190969701
182 STAT1 NM_007315.3(STAT1):c.1727+12C>T SNV Benign 333268 rs201733976 GRCh37: 2:191844486-191844486
GRCh38: 2:190979760-190979760
183 STAT1 NM_007315.3(STAT1):c.*154T>C SNV Benign 333263 rs41481847 GRCh37: 2:191835275-191835275
GRCh38: 2:190970549-190970549
184 STAT1 NM_007315.3(STAT1):c.*661T>C SNV Benign 333257 rs45449693 GRCh37: 2:191834768-191834768
GRCh38: 2:190970042-190970042
185 STAT1 NM_007315.3(STAT1):c.634-13C>T SNV Benign 333288 rs200380549 GRCh37: 2:191862746-191862746
GRCh38: 2:190998020-190998020
186 STAT1 NM_007315.3(STAT1):c.1222-5T>C SNV Benign 252674 rs191364028 GRCh37: 2:191850391-191850391
GRCh38: 2:190985665-190985665
187 STAT1 NM_007315.3(STAT1):c.-140G>C SNV Benign 333294 rs118149197 GRCh37: 2:191878389-191878389
GRCh38: 2:191013663-191013663
188 STAT1 NM_007315.3(STAT1):c.1127+10G>A SNV Benign 333280 rs140665796 GRCh37: 2:191851755-191851755
GRCh38: 2:190987029-190987029
189 STAT1 NM_007315.3(STAT1):c.1090T>C (p.Phe364Leu) SNV Benign 333283 rs759722579 GRCh37: 2:191854348-191854348
GRCh38: 2:190989622-190989622
190 STAT1 NM_007315.3(STAT1):c.-328C>T SNV Benign 333300 rs45502197 GRCh37: 2:191878916-191878916
GRCh38: 2:191014190-191014190
191 STAT1 NM_007315.3(STAT1):c.*1060A>C SNV Benign 333250 rs570854463 GRCh37: 2:191834369-191834369
GRCh38: 2:190969643-190969643
192 STAT1 NM_007315.3(STAT1):c.1263+7G>A SNV Benign 333275 rs56228116 GRCh37: 2:191850338-191850338
GRCh38: 2:190985612-190985612
193 STAT1 NM_007315.3(STAT1):c.1222-9G>T SNV Benign 333278 rs551727276 GRCh37: 2:191850395-191850395
GRCh38: 2:190985669-190985669
194 STAT1 NM_007315.3(STAT1):c.-298C>T SNV Benign 333298 rs531009254 GRCh37: 2:191878886-191878886
GRCh38: 2:191014160-191014160
195 STAT1 NM_007315.3(STAT1):c.990G>A (p.Gln330=) SNV Benign 333284 rs41509946 GRCh37: 2:191856001-191856001
GRCh38: 2:190991275-190991275
196 STAT1 NM_007315.3(STAT1):c.1116T>C (p.Asn372=) SNV Benign 333281 rs55891000 GRCh37: 2:191851776-191851776
GRCh38: 2:190987050-190987050
197 STAT1 NM_007315.3(STAT1):c.1872C>T (p.Gly624=) SNV Benign 333265 rs2230101 GRCh37: 2:191843583-191843583
GRCh38: 2:190978857-190978857
198 STAT1 NM_007315.3(STAT1):c.354C>T (p.Asn118=) SNV Benign 333290 rs45463799 GRCh37: 2:191872307-191872307
GRCh38: 2:191007581-191007581
199 STAT1 NM_007315.4(STAT1):c.1127+9C>T SNV Benign 791049 rs201370851 GRCh37: 2:191851756-191851756
GRCh38: 2:190987030-190987030
200 STAT1 NM_007315.3(STAT1):c.633+6T>A SNV Benign 333289 rs45459703 GRCh37: 2:191862937-191862937
GRCh38: 2:190998211-190998211
201 STAT1 NM_007315.3(STAT1):c.1314A>G (p.Gln438=) SNV Benign 333274 rs138091660 GRCh37: 2:191849069-191849069
GRCh38: 2:190984343-190984343
202 STAT1 NM_007315.3(STAT1):c.1347+8T>G SNV Benign 333272 rs16833147 GRCh37: 2:191849028-191849028
GRCh38: 2:190984302-190984302
203 STAT1 NM_007315.3(STAT1):c.1314A>G (p.Gln438=) SNV Benign 333274 rs138091660 GRCh37: 2:191849069-191849069
GRCh38: 2:190984343-190984343

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 31a:

72 (showing 5, show less)
# Symbol AA change Variation ID SNP ID
1 STAT1 p.Leu706Ser VAR_018266 rs137852677
2 STAT1 p.Glu320Gln VAR_065816 rs137852680
3 STAT1 p.Gln463His VAR_065817 rs137852679
4 STAT1 p.Lys637Glu VAR_068713 rs587777705
5 STAT1 p.Lys673Arg VAR_068714 rs587777704

Expression for Immunodeficiency 31a

Search GEO for disease gene expression data for Immunodeficiency 31a.

Pathways for Immunodeficiency 31a

GO Terms for Immunodeficiency 31a

Sources for Immunodeficiency 31a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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