Variant (rsID / SNP)
rs17857515
rs17857515 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TOPORS. Location: chromosome 9, position 32,542,278. Clinical significance in the table: Benign.
Reference-table entries
TOPORSBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:32542278
- Cytoband
- 9p21.1
- HGVS
- NM_005802.5(TOPORS):c.2245A>G (p.Asn749Asp)
- Allele change
- Missense_N684D
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.