rs201377252

This variant is located in the BMP1 gene.

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ClinVar annotation

Uncertain Significance★★★☆
3 submitters1 publication

Osteogenesis imperfecta; Inborn genetic diseases; not provided

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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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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