rs80358257
From SNPedia
Orientation | minus |
Stabilized | 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 |
rs80358257 | |
pharmgkb | rs80358257 |
gwascentral | rs80358257 |
openSNP | rs80358257 |
23andMe | rs80358257 |
SNPshot | rs80358257 |
SNPdbe | rs80358257 |
MSV3d | rs80358257 |
GWAS Ctlg | rs80358257 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
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.