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rs80358261

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80358261(A;A)
Make rs80358261(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position74486404
GeneNPC2
is asnp
is mentioned by
dbSNPrs80358261
ebirs80358261
HLIrs80358261
Exacrs80358261
Varsomers80358261
Maprs80358261
PheGenIrs80358261
hapmaprs80358261
1000 genomesrs80358261
hgdprs80358261
ensemblrs80358261
gopubmedrs80358261
geneviewrs80358261
scholarrs80358261
googlers80358261
pharmgkbrs80358261
gwascentralrs80358261
openSNPrs80358261
23andMers80358261
23andMe allrs80358261
SNP Nexus

SNPshotrs80358261
SNPdbers80358261
MSV3drs80358261
GWAS Ctlgrs80358261
Max Magnitude0
OMIM601015
Desc
Variant0007
Relatedalso
ClinVar
Risk rs80358261(A;A)
Alt rs80358261(A;A)
Reference rs80358261(G;G)
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.74953107C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009004.4,


[PMID 12447927] Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2.


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