Variant (rsID / SNP)
rs113994207
rs113994207 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTNS. Location: chromosome 17, position 3,559,997. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
CTNSPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:3559997
- Cytoband
- 17p13.2
- HGVS
- NM_004937.3(CTNS):c.589G>A (p.Gly197Arg)
- Allele change
- Missense_G197R
Associated conditions / phenotypes
Ocular cystinosis|Nephropathic cystinosis|Ocular cystinosis|Juvenile nephropathic cystinosis|Nephropathic cystinosis|Cystinosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.