Variant (rsID / SNP)

rs139751448

rs139751448 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPC1. Location: chromosome 18, position 21,136,322. 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: 18:21136322
Cytoband: 18q11.2
HGVS: NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln)
Allele change: Missense_R404Q

Associated conditions / phenotypes

Niemann-Pick disease, type C1|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.