Variant (rsID / SNP)
rs35086888
rs35086888 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTNS. Location: chromosome 17, position 3,550,800. 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
- 17:3550800
- Cytoband
- 17p13.2
- HGVS
- NM_004937.3(CTNS):c.124G>A (p.Val42Ile)
- Allele change
- Missense_V42I
Associated conditions / phenotypes
Cystinosis, atypical nephropathic|Nephropathic cystinosis|Ocular cystinosis|Cystinosis|Ocular cystinosis|Juvenile nephropathic cystinosis|Nephropathic cystinosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.