Variant (rsID / SNP)
rs17711594
rs17711594 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDE6A. Location: chromosome 5, position 149,276,063. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
PDE6AConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:149276063
- Cytoband
- 5q32
- HGVS
- NM_000440.3(PDE6A):c.1476A>C (p.Gln492His)
- Allele change
- Missense_Q492H
Associated conditions / phenotypes
Retinitis pigmentosa
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.