rs121434601
This is a variant in the PTH1R gene that changes a arginine to an cysteine.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
parathyroid hormone/parathyroid hormone-related peptide receptor measurement
▶ClinVar annotation
Chondrodysplasia Blomstrand type (BOCD); Connective tissue disorder; Metaphyseal chondrodysplasia, Jansen type; not specified
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.
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