rs578087339

This variant is located in the TFR2 gene.

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ClinVar annotation

Uncertain Significance★★★☆

3 submitters1 publication

Hemochromatosis type 3; not provided; Ovarian serous cystadenocarcinoma; Sarcoma

About TFR2

This gene encodes a single-pass type II membrane protein, which is a member of the transferrin receptor-like family. This protein mediates cellular uptake of transferrin-bound iron, and may be involved in iron metabolism, hepatocyte function and erythrocyte differentiation. Mutations in this gene have been associated with hereditary hemochromatosis type III. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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