rs148211042

This is a variant in the ABCB6 gene that changes a arginine to an glutamine.

▶

ClinVar annotation

Pathogenic★★★☆
5 submitters12 publications

ABCB6-related disorder; Familial pseudohyperkalemia; not specified

View on ClinVar →

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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…