Variant (rsID / SNP)

rs80358264

rs80358264 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPC2. Location: chromosome 14, position 74,951,186. 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: 14:74951186
Cytoband: 14q24.3
HGVS: NM_006432.5(NPC2):c.295T>C (p.Cys99Arg)
Allele change: Missense_C99R

Associated conditions / phenotypes

Niemann-Pick disease, type C2

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.