rs34957318

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

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ClinVar annotation

Pathogenic★★★☆

9 submitters4 publications

Hereditary pulmonary alveolar proteinosis; Interstitial lung disease 2 (ILD2); SFTPC-related disorder; Surfactant metabolism dysfunction, pulmonary, 2 (SMDP2); not specified

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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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