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Variant (rsID / SNP)

rs149684063

CYP4V2

rs149684063 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP4V2. Location: chromosome 4, position 187,117,196. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CYP4V2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:187117196
Cytoband
4q35.1
HGVS
NM_207352.4(CYP4V2):c.367A>G (p.Met123Val)
Allele change
Missense_M123V

Associated conditions / phenotypes

Bietti crystalline corneoretinal dystrophy|Corneal dystrophy|Retinal dystrophy

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.