rs1367064980
This variant is located in the FAM20C gene.
▶ClinVar annotation
Uncertain Significance★★★☆
2 submitters1 publicationnot provided; Inborn genetic diseases
View on ClinVar →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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