Variant: rs149684063

present in Gene: CYP4V2 present in Chromosome: 4 Position on Chromosome: 186196042 Alleles of this Variant: A/G

rs149684063 in CYP4V2 gene and BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY PMID 22772592 2012 CYP4V2 in Bietti's crystalline dystrophy: ocular localization, metabolism of ω-3-polyunsaturated fatty acids, and functional deficit of the p.H331P variant.

PMID 15042513 2004 Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.