Variant (rsID / SNP)

rs119103282

rs119103282 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP4V2. Location: chromosome 4, position 187,113,107. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CYP4V2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 4:187113107
Cytoband: 4q35.1
HGVS: NM_207352.4(CYP4V2):c.130T>A (p.Trp44Arg)
Allele change: Missense_W44R

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.