Variant (rsID / SNP)

rs113994205

rs113994205 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTNS. Location: chromosome 17, position 3,558,599. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CTNSPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:3558599
Cytoband: 17p13.2
HGVS: NM_004937.3(CTNS):c.414G>A (p.Trp138Ter)
Allele change: Nonsense_W138X

Associated conditions / phenotypes

Nephropathic cystinosis|Ocular cystinosis|Juvenile nephropathic cystinosis|Nephropathic cystinosis|Cystinosis

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.