rs115604088
This is a regulatory region variant variant in the BMPR2 gene.
▶ClinVar annotation
Primary pulmonary hypertension (PPH1); Pulmonary arterial hypertension; Pulmonary hypertension, primary, 1 (PPH1); Pulmonary venoocclusive disease 1 (PVOD1); not specified
View on ClinVar →About BMPR2
This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of two different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Mutations in this gene have been associated with primary pulmonary hypertension, both familial and fenfluramine-associated, and with pulmonary venoocclusive disease. [provided by RefSeq, May 2020]
View all BMPR2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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