rs267606820

This is a variant in the FLVCR1 gene that changes a asparagine to an aspartate.

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ClinVar annotation

Pathogenic★★★☆
4 submitters8 publications

Posterior column ataxia-retinitis pigmentosa syndrome (RETSNS)

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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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