rs80358257

minus

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

Make rs80358257(C;G)

Make rs80358257(G;G)

Reference

GRCh38 38.1/141

Chromosome

18

Position

23538564

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs80358257
dbSNP (classic)	rs80358257
ClinGen	rs80358257
ebi	rs80358257
HLI	rs80358257
Exac	rs80358257
Gnomad	rs80358257
Varsome	rs80358257
LitVar	rs80358257
Map	rs80358257
PheGenI	rs80358257
Biobank	rs80358257
1000 genomes	rs80358257
hgdp	rs80358257
ensembl	rs80358257
geneview	rs80358257
scholar	rs80358257
google	rs80358257
pharmgkb	rs80358257
gwascentral	rs80358257
openSNP	rs80358257
23andMe	rs80358257
SNPshot	rs80358257
SNPdbe	rs80358257
MSV3d	rs80358257
GWAS Ctlg	rs80358257

GMAF

0.0004591

Max Magnitude

0

OMIM	607623
Desc
Variant	0012
Related	also

ClinVar
Risk	rs80358257(G;G)
Alt	rs80358257(G;G)
Reference	Rs80358257(C;C)
Significance	Pathogenic
Disease	Niemann-Pick disease type C1 not provided Niemann-Pick disease Ataxia Cataplexy Cognitive impairment Headache Postural instability Speech apraxia
Variation	info
Gene	NPC1
CLNDBN	Niemann-Pick disease type C1 not provided Niemann-Pick disease, type C Ataxia Cataplexy Cognitive impairment Headache Postural instability Speech apraxia
Reversed	1
HGVS	NC_000018.9:g.21118528G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003100.7, RCV000254671.1, RCV000321958.1, RCV000415371.1,

[PMID 11333381 ] Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.

[PMID 11349231 ] Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.

[PMID 16098014] Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.