Variant (rsID / SNP)

rs113994206

rs113994206 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTNS. Location: chromosome 17, position 3,559,792. 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: 17:3559792
Cytoband: 17p13.2
HGVS: NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)
Allele change: Missense_L158P

Associated conditions / phenotypes

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