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Variant (rsID / SNP)

rs80358257

NPC1

rs80358257 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPC1. Location: chromosome 18, position 21,118,528. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NPC1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
18:21118528
Cytoband
18q11.2
HGVS
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
Allele change
Missense_P1007A

Associated conditions / phenotypes

Niemann-Pick disease, type C1|Niemann-Pick disease, type C|6 conditions

Public references

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