rs894067959

This variant is located in the CYP4V2 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Bietti crystalline corneoretinal dystrophy; Corneal dystrophy

About CYP4V2

This gene encodes a member of the cytochrome P450 hemethiolate protein superfamily which are involved in oxidizing various substrates in the metabolic pathway. It is implicated in the metabolism of fatty acid precursors into n-3 polyunsaturated fatty acids. Mutations in this gene result in Bietti crystalline corneoretinal dystrophy. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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