rs121908865
This is a variant in the TSHR gene that changes a arginine to an glutamine.
▶ClinVar annotation
Familial gestational hyperthyroidism; Familial hyperthyroidism due to mutations in TSH receptor; Hypothyroidism due to TSH receptor mutations
View on ClinVar →About TSHR
The protein encoded by this gene is a membrane protein and a major controller of thyroid cell metabolism. The encoded protein is a receptor for thyrothropin and thyrostimulin, and its activity is mediated by adenylate cyclase. Defects in this gene are a cause of several types of hyperthyroidism. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
View all TSHR variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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