rs318240762

This is a variant in the BMP1 gene that changes a glycine to an arginine.

▶

ClinVar annotation

Pathogenic★☆☆☆
6 submitters7 publications

Abnormality of the skeletal system; Osteogenesis imperfecta (OI); Osteogenesis imperfecta type 13

View on ClinVar →

About BMP1

This gene encodes a protein that is capable of inducing formation of cartilage in vivo. Although other bone morphogenetic proteins are members of the TGF-beta superfamily, this gene encodes a protein that is not closely related to other known growth factors. This gene is expressed as alternatively spliced variants that share an N-terminal protease domain but differ in their C-terminal region. [provided by RefSeq, Aug 2008]

View all BMP1 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

Sign in to join the discussion.

Loading comments…