rs28934597
This is a variant in the HFE gene that changes a glycine to an arginine.
▶ClinVar annotation
Hemochromatosis type 1 (HFE1); not specified
View on ClinVar →About HFE
The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. [provided by RefSeq, May 2022]
View all HFE variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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