Variant (rsID / SNP)

rs112317698

rs112317698 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTNS. Location: chromosome 17, position 3,565,328. Clinical significance in the table: Benign.

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Reference-table entries

CTNSBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:3565328
Cytoband: 17p13.2
HGVS: NM_004937.3(CTNS):c.*1665A>G
Allele change: Silent

Associated conditions / phenotypes

Ocular cystinosis|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.