rs80358266

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs80358266(G;T)

Make rs80358266(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

74484426

Gene

NPC2

is a	snp
is	mentioned by
dbSNP	rs80358266
dbSNP (classic)	rs80358266
ClinGen	rs80358266
ebi	rs80358266
HLI	rs80358266
Exac	rs80358266
Gnomad	rs80358266
Varsome	rs80358266
LitVar	rs80358266
Map	rs80358266
PheGenI	rs80358266
Biobank	rs80358266
1000 genomes	rs80358266
hgdp	rs80358266
ensembl	rs80358266
geneview	rs80358266
scholar	rs80358266
google	rs80358266
pharmgkb	rs80358266
gwascentral	rs80358266
openSNP	rs80358266
23andMe	rs80358266
SNPshot	rs80358266
SNPdbe	rs80358266
MSV3d	rs80358266
GWAS Ctlg	rs80358266

Max Magnitude

0

OMIM	601015
Desc
Variant	0004
Related	also

ClinVar
Risk	rs80358266(A;A) rs80358266(T;T)
Alt	rs80358266(A;A) rs80358266(T;T)
Reference	Rs80358266(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.74951129C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009001.3,

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