Variant (rsID / SNP)
rs779278368
rs779278368 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTSD. Location: chromosome 11, position 1,782,667. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
CTSDConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:1782667
- Cytoband
- 11p15.5
- HGVS
- NM_001909.5(CTSD):c.100C>T (p.Arg34Trp)
- Allele change
- Missense_R34W
Associated conditions / phenotypes
Seizure|Neuronal ceroid lipofuscinosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.