Variant (rsID / SNP)
rs760256854
rs760256854 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTNS. Location: chromosome 17, position 3,560,019. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
CTNSPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Microsatellite
- Chromosome / position
- 17:3560019
- Cytoband
- 17p13.2
- HGVS
- NM_004937.3(CTNS):c.611ACG[1] (p.Asp205del)
Associated conditions / phenotypes
Nephropathic cystinosis|Cystinosis|Nephropathic cystinosis|Ocular cystinosis|Juvenile nephropathic cystinosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.