Variant (rsID / SNP)
rs3736456
rs3736456 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP4V2. Location: chromosome 4, position 187,122,355. Clinical significance in the table: Benign.
Reference-table entries
CYP4V2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:187122355
- Cytoband
- 4q35.2
- HGVS
- NM_207352.4(CYP4V2):c.846T>C (p.Cys282=)
- Allele change
- Synonymous_C282C
Associated conditions / phenotypes
Bietti crystalline corneoretinal dystrophy|Corneal dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.