Variant (rsID / SNP)
rs398123284
rs398123284 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPC1. Location: chromosome 18, position 21,123,467. Clinical significance in the table: Pathogenic.
Reference-table entries
NPC1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 18:21123467
- Cytoband
- 18q11.2
- HGVS
- NM_000271.5(NPC1):c.2196dup (p.Pro733fs)
Associated conditions / phenotypes
Niemann-Pick disease, type C1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.