Variant (rsID / SNP)
rs375970075
rs375970075 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTNS. Location: chromosome 17, position 3,558,541. Clinical significance in the table: Benign.
Reference-table entries
CTNSBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:3558541
- Cytoband
- 17p13.2
- HGVS
- NM_004937.3(CTNS):c.356G>A (p.Arg119His)
- Allele change
- Missense_R119H
Associated conditions / phenotypes
Ocular cystinosis|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.