rs1055138

This is a variant in the CYP4V2 gene that changes a leucine to an valine.

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ClinVar annotation

Benign★★★☆
15 submitters3 publications

Bietti crystalline corneoretinal dystrophy (BCD); Corneal dystrophy; Retinal dystrophy; not specified

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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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