A623I (p.Ala623Ile) variant of TSHR (Thyrotropin receptor)
A623I (p.Ala623Ile) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Thyroid adenoma, hyperfunctioning, somatic. The record also includes published literature and structural context.
A623I (p.Ala623Ile) variant details
- p.Ala623Ile
- rs121908860
- cosmic curated COSV53318
- ClinGen CA118197
- ClinVar RCV000006801
- Pathogenic
- Thyroid adenoma, hyperfunctioning, somatic
- Missense
- ClinVar: Pathogenic (Thyroid adenoma, hyperfunctioning, somatic)
- EBI: Pathogenic (in hyperthyroidism)
- UniProt: Pathogenic (in hyperthyroidism)
- Structural context available
- Cited in: Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas. (PMID 8413627)
- Cited in: Diversity and prevalence of somatic mutations in the thyrotropin receptor and Gs alpha genes as a cause of toxic… (PMID 9253356)