rs150074056

This is a variant in the FUT1 gene that changes a histidine to an tyrosine.

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ClinVar annotation

Pathogenic
1 submitter1 publication

Para-Bombay phenotype

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About FUT1

This gene encodes a Golgi stack membrane protein that is involved in the creation of a precursor of the H antigen, which is required for the final step in the synthesis of soluble A and B antigens. This is one of two genes encoding the galactoside 2-L-fucosyltransferase enzyme. Mutations in this gene are a cause of the H-Bombay blood group. [provided by RefSeq, Aug 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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