c.2200T>G
c.2200T>G · SaudiVarKB evidence summary derived from retained literature mentions.
1Variant mentions
1Publications
3Associated gene records
1Associated phenotype records
Associated gene records
Co-mentioned in the same publicationsAssociated phenotype records
Co-mentioned in the same publications| Phenotype | Identifier / context | Articles | Mentions |
|---|---|---|---|
| thyroid cancer | — | 1 | 1 |
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Population record | Cohort 100 | 1 | 1 |
Supporting publications
1 records- 2010Biallelic p.R2223H mutation in the thyroglobulin gene causes thyroglobulin retention and severe hypothyroidism with subsequent development of thyroid carcinoma.The Journal of clinical endocrinology and metabolismPubMed ↗