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rs80358260

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80358260(G;T)
Make rs80358260(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position74493217
GeneISCA2, NPC2
is asnp
is mentioned by
dbSNPrs80358260
ebirs80358260
HLIrs80358260
Exacrs80358260
Varsomers80358260
Maprs80358260
PheGenIrs80358260
hapmaprs80358260
1000 genomesrs80358260
hgdprs80358260
ensemblrs80358260
gopubmedrs80358260
geneviewrs80358260
scholarrs80358260
googlers80358260
pharmgkbrs80358260
gwascentralrs80358260
openSNPrs80358260
23andMers80358260
23andMe allrs80358260
SNP Nexus

SNPshotrs80358260
SNPdbers80358260
MSV3drs80358260
GWAS Ctlgrs80358260
Max Magnitude0
OMIM601015
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80358260(A,T;A,T)
Alt rs80358260(A,T;A,T)
Reference rs80358260(G;G)
Significance Pathogenic
Disease Niemann-Pick disease type C2
Variation info
Gene ISCA2 NPC2
CLNDBN Niemann-Pick disease type C2
Reversed 1
HGVS NC_000014.8:g.74959920C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008998.2,


[PMID 11125141] Identification of HE1 as the second gene of Niemann-Pick C disease.


[PMID 11567215OA-icon.png] Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.


[PMID 17470133] Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2.