Variant (rsID / SNP)
rs189632527
rs189632527 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTNS. Location: chromosome 17, position 3,559,774. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
CTNSBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:3559774
- Cytoband
- 17p13.2
- HGVS
- NM_004937.3(CTNS):c.462-7C>A
- Allele change
- Silent
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.