Variant (rsID / SNP)

rs80358260

rs80358260 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPC2. Location: chromosome 14, position 74,959,920. Clinical significance in the table: Pathogenic.

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Reference-table entries

NPC2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:74959920
Cytoband: 14q24.3
HGVS: NM_006432.5(NPC2):c.58G>T (p.Glu20Ter)
Allele change: Nonsense_E20X

Associated conditions / phenotypes

Niemann-Pick disease, type C2|Niemann-Pick disease, type C

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.