CYP4V2 Chromosome 4
Cytochrome P450 family 4 subfamily V member 2
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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 |
|---|---|---|---|
| RS119103284 | Health Risk | Conflicting classifications of pathogenicity | Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy |
| RS1300763823 | Health Risk | Conflicting classifications of pathogenicity | Bietti crystalline corneoretinal dystrophy, Corneal dystrophy, Bietti crystalline corneoretinal dystrophy |
| RS138444697 | Health Risk | Conflicting classifications of pathogenicity | Bietti crystalline corneoretinal dystrophy, Retinal dystrophy, Bietti crystalline corneoretinal dystrophy |
| RS141950964 | Health Risk | Conflicting classifications of pathogenicity | Bietti crystalline corneoretinal dystrophy, Corneal dystrophy, Retinal dystrophy |
| RS142244984 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS142775374 | Health Risk | Conflicting classifications of pathogenicity | Corneal dystrophy, Bietti crystalline corneoretinal dystrophy, Corneal dystrophy |
| RS144129557 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS145611966 | Health Risk | Conflicting classifications of pathogenicity | Bietti crystalline corneoretinal dystrophy, Corneal dystrophy, CYP4V2-related disorder |
| RS149684063 | Health Risk | Conflicting classifications of pathogenicity | Bietti crystalline corneoretinal dystrophy, Corneal dystrophy, Retinal dystrophy |
| RS192436436 | Health Risk | Conflicting classifications of pathogenicity | Corneal dystrophy, Bietti crystalline corneoretinal dystrophy, Corneal dystrophy |
| RS199476185 | Health Risk | Conflicting classifications of pathogenicity | Bietti crystalline corneoretinal dystrophy, Corneal dystrophy, Retinal dystrophy |
| RS200010109 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201006021 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201205689 | Health Risk | Conflicting classifications of pathogenicity | Corneal dystrophy, Bietti crystalline corneoretinal dystrophy, Corneal dystrophy |
| RS202148693 | Health Risk | Conflicting classifications of pathogenicity | Bietti crystalline corneoretinal dystrophy, Corneal dystrophy, Retinal dystrophy |
| RS35524919 | Health Risk | Conflicting classifications of pathogenicity | Corneal dystrophy, Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy |
| RS374270799 | Health Risk | Conflicting classifications of pathogenicity | CYP4V2-related disorder, CYP4V2-related disorder |
| RS531538384 | Health Risk | Conflicting classifications of pathogenicity | Bietti crystalline corneoretinal dystrophy, Corneal dystrophy, Inborn genetic diseases |
| RS541778964 | Health Risk | Conflicting classifications of pathogenicity | Corneal dystrophy, Bietti crystalline corneoretinal dystrophy, Corneal dystrophy |
| RS55678259 | Health Risk | Conflicting classifications of pathogenicity | Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy |
| RS559133074 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS61745524 | Health Risk | Conflicting classifications of pathogenicity | Corneal dystrophy, Bietti crystalline corneoretinal dystrophy, CYP4V2-related disorder |
| RS72646291 | Health Risk | Conflicting classifications of pathogenicity | Corneal dystrophy, Bietti crystalline corneoretinal dystrophy, Corneal dystrophy |
| RS72646292 | Health Risk | Conflicting classifications of pathogenicity | Corneal dystrophy, Bietti crystalline corneoretinal dystrophy, Corneal dystrophy |
| RS753561422 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS76978024 | Health Risk | Conflicting classifications of pathogenicity | Corneal dystrophy, Bietti crystalline corneoretinal dystrophy, Corneal dystrophy |
| RS77175303 | Health Risk | Conflicting classifications of pathogenicity | Corneal dystrophy, Bietti crystalline corneoretinal dystrophy, Corneal dystrophy |
| RS777774802 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Bietti crystalline corneoretinal dystrophy, Retinal dystrophy |
| RS78965616 | Health Risk | Conflicting classifications of pathogenicity | Corneal dystrophy, Bietti crystalline corneoretinal dystrophy, Corneal dystrophy |
| RS1397702839 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1398531485 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1473120800 | Health Risk | Likely pathogenic | — |
| RS1736296921 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1736302165 | Health Risk | Likely pathogenic | — |
| RS1736679814 | Health Risk | Likely pathogenic | — |
| RS199476187 | Health Risk | Likely pathogenic | Bietti crystalline corneoretinal dystrophy, Retinal dystrophy, Bietti crystalline corneoretinal dystrophy |
| RS199476201 | Health Risk | Likely pathogenic | Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy |
| RS2126585681 | Health Risk | Likely pathogenic | — |
| RS2478888763 | Health Risk | Likely pathogenic | Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy |
| RS750524069 | Health Risk | Likely pathogenic | — |
| RS751069999 | Health Risk | Likely pathogenic | — |
| RS1013053543 | Health Risk | Pathogenic | — |
| RS119103283 | Health Risk | Pathogenic | Bietti crystalline corneoretinal dystrophy, Retinal dystrophy, Bietti crystalline corneoretinal dystrophy |
| RS119103285 | Health Risk | Pathogenic | Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy |
| RS1228072399 | Health Risk | Pathogenic | — |
| RS1280925919 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1300138505 | Health Risk | Pathogenic | Familial pancreatic carcinoma, Bietti crystalline corneoretinal dystrophy, Familial pancreatic carcinoma |
| RS144109267 | Health Risk | Pathogenic | — |
| RS146494374 | Health Risk | Pathogenic | Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy |
| RS1481160549 | Health Risk | Pathogenic | Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy |