rs896080299

This variant is located in the HFE gene.

ClinVar annotation

Likely Benign☆☆☆
1 submitter1 publication

Hereditary hemochromatosis

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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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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