rs763622631

This variant is located in the FAM20C gene.

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ClinVar annotation

Conflicting Classifications
3 submitters2 publications

not provided; Inborn genetic diseases; Lethal osteosclerotic bone dysplasia

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About FAM20C

This gene encodes a member of the family of secreted protein kinases. The encoded protein binds calcium and phosphorylates proteins involved in bone mineralization. Mutations in this gene are associated with the autosomal recessive disorder Raine syndrome. [provided by RefSeq, Apr 2014]

View all FAM20C variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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