rs200703100

This variant is located in the HEPHL1 gene.

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ClinVar annotation

Likely Pathogenic★☆☆☆

1 submitter1 publication

About HEPHL1

Enables ferroxidase activity. Involved in intracellular iron ion homeostasis. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

View all HEPHL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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