rs376428271

This variant is located in the FLVCR1 gene.

ClinVar annotation

Likely Benign☆☆☆
1 submitter1 publication
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About FLVCR1

This gene encodes a member of the major facilitator superfamily of transporter proteins. The encoded protein is a heme transporter that may play a critical role in erythropoiesis by protecting developing erythroid cells from heme toxicity. This gene may play a role in posterior column ataxia with retinitis pigmentosa and the hematological disorder Diamond-Blackfan syndrome. [provided by RefSeq, Jan 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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