Gene entry
CYP4V2
cytochrome P450 family 4 subfamily V member 2
- Chromosome
- 4
- Cytoband
- 4q35.1-q35.2
- Variants (rsID)
- 35
CYP4V2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 4 (region 4q35.1-q35.2). Its official name is “cytochrome P450 family 4 subfamily V member 2”. The reference table lists 35 variants (rsID) for this gene.
Clinically classified variants
23 reference-table entries with clinical significance.
- rs1055138Benignsingle nucleotide variantBietti crystalline corneoretinal dystrophy|Corneal dystrophy
- rs13146272Benignsingle nucleotide variantBietti crystalline corneoretinal dystrophy|Corneal dystrophy
- rs34745240Benignsingle nucleotide variantCorneal dystrophy|Bietti crystalline corneoretinal dystrophy
- rs3736455Benignsingle nucleotide variantBietti crystalline corneoretinal dystrophy|Corneal dystrophy
- rs3736456Benignsingle nucleotide variantBietti crystalline corneoretinal dystrophy|Corneal dystrophy
- rs119103284Conflicting interpretationssingle nucleotide variantBietti crystalline corneoretinal dystrophy
- rs141950964Conflicting interpretationssingle nucleotide variantBietti crystalline corneoretinal dystrophy|Corneal dystrophy
- rs149684063Conflicting interpretationssingle nucleotide variantBietti crystalline corneoretinal dystrophy|Corneal dystrophy|Retinal dystrophy
- rs199476185Conflicting interpretationssingle nucleotide variantBietti crystalline corneoretinal dystrophy|Corneal dystrophy|Retinal dystrophy
- rs61745524Conflicting interpretationssingle nucleotide variantCorneal dystrophy|Bietti crystalline corneoretinal dystrophy
- rs76978024Conflicting interpretationssingle nucleotide variantCorneal dystrophy|Bietti crystalline corneoretinal dystrophy
- rs119103283Pathogenicsingle nucleotide variantBietti crystalline corneoretinal dystrophy
- rs119103285Pathogenicsingle nucleotide variantBietti crystalline corneoretinal dystrophy
- rs144109267Pathogenicsingle nucleotide variant
- rs199476183Pathogenicsingle nucleotide variantBietti crystalline corneoretinal dystrophy
- rs199476193Pathogenicsingle nucleotide variantBietti crystalline corneoretinal dystrophy
- rs199476197Pathogenicsingle nucleotide variantBietti crystalline corneoretinal dystrophy|Retinal dystrophy
- rs199476200Pathogenicsingle nucleotide variantBietti crystalline corneoretinal dystrophy
- rs199476203Pathogenicsingle nucleotide variantBietti crystalline corneoretinal dystrophy
- rs199476204Pathogenicsingle nucleotide variantBietti crystalline corneoretinal dystrophy
- rs119103282Uncertain significancesingle nucleotide variantBietti crystalline corneoretinal dystrophy
- rs199476196Uncertain significancesingle nucleotide variantBietti crystalline corneoretinal dystrophy
- rs200623218Uncertain significancesingle nucleotide variantCorneal dystrophy|Bietti crystalline corneoretinal dystrophy
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.