rs796065353
This is a variant in the ABCB6 gene that changes a glutamine to an lysine.
▶ClinVar annotation
About ABCB6
This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. This protein is a member of the heavy metal importer subfamily and plays a role in porphyrin transport. This gene is the molecular basis of the Langereis (Lan) blood group antigen and mutations in this gene underlie familial pseudohyperkalemia and dyschromatosis universalis hereditaria. [provided by RefSeq, Mar 2017]
View all ABCB6 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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