Autoimmune thyroid disease, susceptibility to, 3: genes and variants
Autoimmune thyroid disease, susceptibility to, 3 is linked to 1 analyzed protein (TG). 4 DNA variants are known to cause it; 15 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 Autoimmune thyroid disease, susceptibility to, 3
TG: Thyroglobulin
It provides the large iodinated scaffold on which thyroid hormones are synthesized and stored within thyroid follicles. Biallelic or dominant pathogenic variants can impair hormone production and cause congenital hypothyroidism, often with goiter.
4 disease-causing and 15 uncertain variants in TG are linked to Autoimmune thyroid disease, susceptibility to, 3.
Known disease-causing variants in Autoimmune thyroid disease, susceptibility to, 3
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| TG G2375R | 2375 | Cholinesterase-like (ChEL) | Disease-causing (★★) |
| TG R2336Q | 2336 | Cholinesterase-like (ChEL) | Disease-causing (★★) |
| TG R2242H | 2242 | Cholinesterase-like (ChEL) | Disease-causing (★★) |
| TG C1728R | 1728 | Type IIIB | Disease-causing (★) |
Same protein, different disease
- Iodotyrosyl coupling defect is also caused by TG variants; they fall mostly in different places as the Autoimmune thyroid disease, susceptibility to, 3 variants (8 disease-causing).
Diseases related to Autoimmune thyroid disease, susceptibility to, 3
- Iodotyrosyl coupling defect, also linked to TG
- Hypothyroidism, also linked to TG
Frequently asked questions
Which genes are linked to Autoimmune thyroid disease, susceptibility to, 3?
In CATVariant, Autoimmune thyroid disease, susceptibility to, 3 is linked to 1 analyzed protein: TG (Thyroglobulin).
How many genetic variants are linked to Autoimmune thyroid disease, susceptibility to, 3?
20 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 15 are of uncertain significance or have conflicting reports.
Which uncertain variants in Autoimmune thyroid disease, susceptibility to, 3 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