Variant (rsID / SNP)

rs199476193

rs199476193 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP4V2. Location: chromosome 4, position 187,120,197. Clinical significance in the table: Pathogenic.

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Reference-table entries

CYP4V2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:187120197
Cytoband: 4q35.1
HGVS: NM_207352.4(CYP4V2):c.761A>G (p.His254Arg)
Allele change: Missense_H254R

Associated conditions / phenotypes

Bietti crystalline corneoretinal dystrophy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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