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Variant (rsID / SNP)

rs199476185

CYP4V2

rs199476185 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP4V2. Location: chromosome 4, position 187,115,676. 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
4:187115676
Cytoband
4q35.1
HGVS
NM_207352.4(CYP4V2):c.237G>T (p.Glu79Asp)
Allele change
Missense_E79D

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.