Variant (rsID / SNP)
rs80358252
rs80358252 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPC1. Location: chromosome 18, position 21,141,425. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
NPC1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:21141425
- Cytoband
- 18q11.2
- HGVS
- NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr)
- Allele change
- Missense_C177Y
Associated conditions / phenotypes
Niemann-Pick disease, type C1|Inborn genetic diseases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.