Variant (rsID / SNP)

rs80358253

rs80358253 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPC1. Location: chromosome 18, position 21,121,319. Clinical significance in the table: Pathogenic.

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Reference-table entries

NPC1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 18:21121319
Cytoband: 18q11.2
HGVS: NM_000271.5(NPC1):c.2324A>C (p.Gln775Pro)
Allele change: Missense_Q775P

Associated conditions / phenotypes

Niemann-Pick disease, type C1

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.