Variant (rsID / SNP)
rs62638195
rs62638195 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RDH5. Location: chromosome 12, position 56,115,065. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
RDH5Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:56115065
- Cytoband
- 12q13.2
- HGVS
- NM_002905.5(RDH5):c.97A>G (p.Ile33Val)
- Allele change
- Silent
Associated conditions / phenotypes
Pigmentary retinal dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.