rs147445258

This is a variant in the ABCB6 gene that changes a alanine to an threonine.

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ClinVar annotation

Likely Benign★★★☆

6 submitters2 publications

ABCB6-related disorder; Acute intermittent porphyria (AIP); Hereditary coproporphyria (HCP); Protoporphyria, erythropoietic, 1 (EPP1); Variegate porphyria (VP)

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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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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