rs41290646

This variant is located in the PTH1R gene.

▶

ClinVar annotation

Likely Benign★★★☆

9 submitters3 publications

Chondrodysplasia Blomstrand type; Metaphyseal chondrodysplasia, Jansen type; not provided; not specified; Connective tissue disorder

View on ClinVar →

About PTH1R

The protein encoded by this gene is a member of the G-protein coupled receptor family 2. This protein is a receptor for parathyroid hormone (PTH) and for parathyroid hormone-like hormone (PTHLH). The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system. Defects in this receptor are known to be the cause of Jansen's metaphyseal chondrodysplasia (JMC), chondrodysplasia Blomstrand type (BOCD), as well as enchodromatosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]

View all PTH1R variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…