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rs80358259

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80358259(C;C)
Make rs80358259(C;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position23536736
GeneNPC1
is asnp
is mentioned by
dbSNPrs80358259
ebirs80358259
HLIrs80358259
Exacrs80358259
Varsomers80358259
Maprs80358259
PheGenIrs80358259
hapmaprs80358259
1000 genomesrs80358259
hgdprs80358259
ensemblrs80358259
gopubmedrs80358259
geneviewrs80358259
scholarrs80358259
googlers80358259
pharmgkbrs80358259
gwascentralrs80358259
openSNPrs80358259
23andMers80358259
23andMe allrs80358259
SNP Nexus

SNPshotrs80358259
SNPdbers80358259
MSV3drs80358259
GWAS Ctlgrs80358259
Max Magnitude0
OMIM607623
Desc
Variant0010
Relatedalso
ClinVar
Risk rs80358259(C;C)
Alt rs80358259(C;C)
Reference rs80358259(T;T)
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.21116700A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003101.7,


[PMID 10521297OA-icon.png] Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype.


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


[PMID 18216017OA-icon.png] Niemann-Pick type C1 I1061T mutant encodes a functional protein that is selected for endoplasmic reticulum-associated degradation due to protein misfolding.