rs1392030070
This variant is located in the ATP7B gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Wilson disease: Novel mutations in theATP7B gene and clinical correlation in Brazilian patientsAssociationMarta M. Deguti et al.(2004)· Human Mutation
This study used gnomAD database frequency data to estimate Wilson disease (ATP7B) population prevalence and assess variant penetrance. Initial estimate was 1 in 2,400, but after excluding 13 variants with probable low penetrance and 9 variants with VEST3 scores <0.5, the revised prevalence estimate was 1 in 17,000-20,000. The study identified 732 ATP7B variants reported in WD patients; 231 were found in gnomAD (68% missense), with significant population variation (1 in 5,000 in Ashkenazi Jewish and East Asian populations).
About ATP7B
This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein is a monomer, and functions as a copper-transporting ATPase which exports copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease which is characterized by copper accumulation. [provided by RefSeq, Dec 2019]
View all ATP7B variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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