CYP4V2 Chromosome 4

Cytochrome P450 family 4 subfamily V member 2
97 variants 97 Health Risk

Upload your DNA to see your personal genotypes for variants in CYP4V2.

What This Gene Does
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]
Gene Info
Gene Group
Cytochrome P450 family 4
Locus Type
gene with protein product
Location
4q35.1-q35.2
Ensembl
ENSG00000145476
Associated Conditions (10)
Bietti crystalline corneoretinal dystrophy
Corneal dystrophy
Retinal dystrophy
Inborn genetic diseases
CYP4V2-related disorder
Familial pancreatic carcinoma
Retinitis pigmentosa
Retinal disorder
Hepatocellular carcinoma
Familial cancer of breast
Key Variants
RS119103284
Conflicting classifications of pathogenicity
Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
Health Risk
RS1300763823
Conflicting classifications of pathogenicity
Bietti crystalline corneoretinal dystrophy, Corneal dystrophy, Bietti crystalline corneoretinal dystrophy
Health Risk
RS138444697
Conflicting classifications of pathogenicity
Bietti crystalline corneoretinal dystrophy, Retinal dystrophy, Bietti crystalline corneoretinal dystrophy
Health Risk
RS141950964
Conflicting classifications of pathogenicity
Bietti crystalline corneoretinal dystrophy, Corneal dystrophy, Retinal dystrophy
Health Risk
RS142244984
Conflicting classifications of pathogenicity
Health Risk
RS142775374
Conflicting classifications of pathogenicity
Corneal dystrophy, Bietti crystalline corneoretinal dystrophy, Corneal dystrophy
Health Risk
RS144129557
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145611966
Conflicting classifications of pathogenicity
Bietti crystalline corneoretinal dystrophy, Corneal dystrophy, CYP4V2-related disorder
Health Risk
RS149684063
Conflicting classifications of pathogenicity
Bietti crystalline corneoretinal dystrophy, Corneal dystrophy, Retinal dystrophy
Health Risk
RS192436436
Conflicting classifications of pathogenicity
Corneal dystrophy, Bietti crystalline corneoretinal dystrophy, Corneal dystrophy
Health Risk
RS199476185
Conflicting classifications of pathogenicity
Bietti crystalline corneoretinal dystrophy, Corneal dystrophy, Retinal dystrophy
Health Risk
RS200010109
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (97)
RSID Category Clinical Significance Conditions
RS1561430786 Health Risk Pathogenic —
RS1579976512 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS1736631406 Health Risk Pathogenic —
RS199476182 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS199476184 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS199476188 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS199476189 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Retinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS199476191 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS199476192 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS199476194 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Retinitis pigmentosa, Bietti crystalline corneoretinal dystrophy
RS199476195 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS199476196 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS199476198 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Retinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS199476199 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS199476200 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS199476202 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS199476204 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS207482233 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Retinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS2126582074 Health Risk Pathogenic —
RS2126582121 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS2126582145 Health Risk Pathogenic —
RS2126585026 Health Risk Pathogenic —
RS2126585037 Health Risk Pathogenic —
RS2126600867 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS2478888752 Health Risk Pathogenic —
RS2478898289 Health Risk Pathogenic —
RS369063468 Health Risk Pathogenic Retinal dystrophy, Bietti crystalline corneoretinal dystrophy, Retinal dystrophy
RS745413794 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS746220304 Health Risk Pathogenic —
RS754614260 Health Risk Pathogenic —
RS754919490 Health Risk Pathogenic —
RS761362530 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Retinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS776616377 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS780661245 Health Risk Pathogenic —
RS797045181 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS894863416 Health Risk Pathogenic —
RS925107016 Health Risk Pathogenic —
RS952799248 Health Risk Pathogenic —
RS1735999769 Health Risk Pathogenic/Likely pathogenic Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS199476183 Health Risk Pathogenic/Likely pathogenic Bietti crystalline corneoretinal dystrophy, Retinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS199476186 Health Risk Pathogenic/Likely pathogenic Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS199476190 Health Risk Pathogenic/Likely pathogenic Bietti crystalline corneoretinal dystrophy, Retinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS199476197 Health Risk Pathogenic/Likely pathogenic Bietti crystalline corneoretinal dystrophy, Retinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS199476203 Health Risk Pathogenic/Likely pathogenic Bietti crystalline corneoretinal dystrophy, Retinal disorder, Bietti crystalline corneoretinal dystrophy
RS746484929 Health Risk Pathogenic/Likely pathogenic Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS767779208 Health Risk Pathogenic/Likely pathogenic Bietti crystalline corneoretinal dystrophy, Retinal dystrophy, Hepatocellular carcinoma
RS775749608 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
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