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rs80358264

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80358264(C;C)
Make rs80358264(C;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position74484483
GeneNPC2
is asnp
is mentioned by
dbSNPrs80358264
ebirs80358264
HLIrs80358264
Exacrs80358264
Varsomers80358264
Maprs80358264
PheGenIrs80358264
hapmaprs80358264
1000 genomesrs80358264
hgdprs80358264
ensemblrs80358264
gopubmedrs80358264
geneviewrs80358264
scholarrs80358264
googlers80358264
pharmgkbrs80358264
gwascentralrs80358264
openSNPrs80358264
23andMers80358264
23andMe allrs80358264
SNP Nexus

SNPshotrs80358264
SNPdbers80358264
MSV3drs80358264
GWAS Ctlgrs80358264
Max Magnitude0
ClinVar
Risk rs80358264(C;C)
Alt rs80358264(C;C)
Reference rs80358264(T;T)
Significance Pathogenic
Disease Niemann-Pick disease type C2
Variation info
Gene NPC2
CLNDBN Niemann-Pick disease type C2
Reversed 1
HGVS NC_000014.8:g.74951186A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020646.1,


[PMID 15937921] Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations.