Disseminated atypical mycobacterial infection: genes and variants
Disseminated atypical mycobacterial infection is linked to 1 analyzed protein (IFNGR1). 1 DNA variants are known to cause it; 182 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Disseminated atypical mycobacterial infection
IFNGR1: Interferon gamma receptor 1
It binds interferon-gamma and initiates STAT1-dependent antimicrobial and immune-activating programs. Complete or partial loss-of-function variants cause Mendelian susceptibility to mycobacterial disease with severity related to residual signaling.
1 disease-causing and 182 uncertain variants in IFNGR1 are linked to Disseminated atypical mycobacterial infection.
Known disease-causing variants in Disseminated atypical mycobacterial infection
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| IFNGR1 I87T | 87 | Extracellular | Disease-causing (★★) |
Diseases related to Disseminated atypical mycobacterial infection
- Chronic granulomatous disease, also linked to IFNGR1
Frequently asked questions
Which genes are linked to Disseminated atypical mycobacterial infection?
In CATVariant, Disseminated atypical mycobacterial infection is linked to 1 analyzed protein: IFNGR1 (Interferon gamma receptor 1).
How many genetic variants are linked to Disseminated atypical mycobacterial infection?
200 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 182 are of uncertain significance or have conflicting reports.
Which uncertain variants in Disseminated atypical mycobacterial infection look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
Download every variant as CSV · Browse all diseases · Methods · About the Center