STAT1 Chromosome 2

Signal transducer and activator of transcription 1
101 variants 101 Health Risk

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What This Gene Does
The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. The protein encoded by this gene can be activated by various ligands including interferon-alpha, interferon-gamma, EGF, PDGF and IL6. This protein mediates the expression of a variety of genes, which is thought to be important for cell viability in response to different cell stimuli and pathogens. The protein plays an important role in immune responses to viral, fungal and mycobacterial pathogens. Mutations in this gene are associated with Immunodeficiency 31B, 31A, and 31C. [provided by RefSeq, Jun 2020]
Gene Info
Gene Group
SH2 domain containing
Locus Type
gene with protein product
Location
2q32.2
Ensembl
ENSG00000115415
Associated Conditions (12)
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
Immunodeficiency 31B
Inborn genetic diseases
STAT1-related disorder
STAT1-Related Immunodeficiency
Inherited Immunodeficiency Diseases
Acute myeloid leukemia
Malignant tumor of esophagus
Lung cancer
Chronic mucocutaneous candidiasis
See cases
Key Variants
RS1167103580
Conflicting classifications of pathogenicity
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
Health Risk
RS140351189
Conflicting classifications of pathogenicity
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
Health Risk
RS140787216
Conflicting classifications of pathogenicity
Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Health Risk
RS146273341
Conflicting classifications of pathogenicity
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
Health Risk
RS148148052
Conflicting classifications of pathogenicity
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
Health Risk
RS148775168
Conflicting classifications of pathogenicity
Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Health Risk
RS1553494436
Conflicting classifications of pathogenicity
Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Health Risk
RS1574648919
Conflicting classifications of pathogenicity
Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Health Risk
RS1574657750
Conflicting classifications of pathogenicity
Inherited Immunodeficiency Diseases, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
Health Risk
RS1693996119
Conflicting classifications of pathogenicity
Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Health Risk
RS185216067
Conflicting classifications of pathogenicity
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
Health Risk
RS190269533
Conflicting classifications of pathogenicity
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
Health Risk
All Variants (101)
RSID Category Clinical Significance Conditions
RS1167103580 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
RS140351189 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
RS140787216 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS146273341 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
RS148148052 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
RS148775168 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS1553494436 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS1574648919 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS1574657750 Health Risk Conflicting classifications of pathogenicity Inherited Immunodeficiency Diseases, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS1693996119 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS185216067 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
RS190269533 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
RS191364028 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS377146580 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
RS41473544 Health Risk Conflicting classifications of pathogenicity Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B
RS45459703 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
RS562518878 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS759722579 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
RS768384746 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS772114461 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
RS911316159 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS1064794955 Health Risk Likely pathogenic —
RS1085307649 Health Risk Likely pathogenic Immunodeficiency 31B, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS1341038926 Health Risk Likely pathogenic —
RS1417484130 Health Risk Likely pathogenic Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS1553497886 Health Risk Likely pathogenic —
RS1559007960 Health Risk Likely pathogenic Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS1574636674 Health Risk Likely pathogenic Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases
RS1574640523 Health Risk Likely pathogenic —
RS1574653439 Health Risk Likely pathogenic Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
RS1574657735 Health Risk Likely pathogenic Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases
RS1574657762 Health Risk Likely pathogenic Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases
RS1574672718 Health Risk Likely pathogenic Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases
RS1692619276 Health Risk Likely pathogenic Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS1692876152 Health Risk Likely pathogenic Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS1693752377 Health Risk Likely pathogenic Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS1693752801 Health Risk Likely pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS2124996603 Health Risk Likely pathogenic Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS2125048161 Health Risk Likely pathogenic Immunodeficiency 31B, Immunodeficiency 31B
RS2125062317 Health Risk Likely pathogenic Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS2125075054 Health Risk Likely pathogenic Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS2470465165 Health Risk Likely pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS2470465594 Health Risk Likely pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B
RS2470477597 Health Risk Likely pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS2470484175 Health Risk Likely pathogenic STAT1-related disorder, STAT1-related disorder
RS2470484242 Health Risk Likely pathogenic Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS2470526475 Health Risk Likely pathogenic Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS2470565458 Health Risk Likely pathogenic Immunodeficiency 31B, Immunodeficiency 31B
RS387906763 Health Risk Likely pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Inherited Immunodeficiency Diseases, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS387906767 Health Risk Likely pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
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