Variant (rsID / SNP)
rs139154882
rs139154882 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTSD. Location: chromosome 11, position 1,780,831. 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
- 11:1780831
- Cytoband
- 11p15.5
- HGVS
- NM_001909.5(CTSD):c.267C>G (p.Pro89=)
- Allele change
- Synonymous_P89P
Associated conditions / phenotypes
Neuronal ceroid lipofuscinosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.