Variant (rsID / SNP)
rs80358259
rs80358259 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPC1. Location: chromosome 18, position 21,116,700. Clinical significance in the table: Pathogenic.
Reference-table entries
NPC1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:21116700
- Cytoband
- 18q11.2
- HGVS
- NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr)
- Allele change
- Missense_I1061T
Associated conditions / phenotypes
Niemann-Pick disease, type C1|Niemann-Pick disease, type C|Inborn genetic diseases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.