Variant (rsID / SNP)

rs119103283

rs119103283 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP4V2. Location: chromosome 4, position 187,117,161. 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: 4:187117161
Cytoband: 4q35.1
HGVS: NM_207352.4(CYP4V2):c.332T>C (p.Ile111Thr)
Allele change: Missense_I111T

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.