Variant (rsID / SNP)
rs267606754
rs267606754 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTNS. Location: chromosome 17, position 3,558,601. 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
- 17:3558601
- Cytoband
- 17p13.2
- HGVS
- NM_004937.3(CTNS):c.416C>T (p.Ser139Phe)
- Allele change
- Missense_S139F
Associated conditions / phenotypes
Cystinosis, atypical nephropathic|Juvenile nephropathic cystinosis|Nephropathic 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.