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rs80358257

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80358257(C;G)
Make rs80358257(G;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position23538564
GeneNPC1
is asnp
is mentioned by
dbSNPrs80358257
ebirs80358257
HLIrs80358257
Exacrs80358257
Varsomers80358257
Maprs80358257
PheGenIrs80358257
hapmaprs80358257
1000 genomesrs80358257
hgdprs80358257
ensemblrs80358257
gopubmedrs80358257
geneviewrs80358257
scholarrs80358257
googlers80358257
pharmgkbrs80358257
gwascentralrs80358257
openSNPrs80358257
23andMers80358257
23andMe allrs80358257
SNP Nexus

SNPshotrs80358257
SNPdbers80358257
MSV3drs80358257
GWAS Ctlgrs80358257
GMAF0.0004591
Max Magnitude0
OMIM607623
Desc
Variant0012
Relatedalso
ClinVar
Risk rs80358257(G;G)
Alt rs80358257(G;G)
Reference rs80358257(C;C)
Significance Pathogenic
Disease Niemann-Pick disease type C1
Variation info
Gene NPC1
CLNDBN Niemann-Pick disease type C1
Reversed 1
HGVS NC_000018.9:g.21118528G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003100.7,


[PMID 11333381OA-icon.png] 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 11349231OA-icon.png] 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.