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Variant (rsID / SNP)

rs119103284

CYP4V2

rs119103284 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP4V2. Location: chromosome 4, position 187,131,740. 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
4:187131740
Cytoband
4q35.2
HGVS
NM_207352.4(CYP4V2):c.1523G>A (p.Arg508His)
Allele change
Missense_R508H

Associated conditions / phenotypes

Bietti crystalline corneoretinal dystrophy

Public references

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