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rs80358253

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80358253(A;C)
Make rs80358253(C;C)
ReferenceGRCh38 38.1/141
Chromosome18
Position23541355
GeneNPC1
is asnp
is mentioned by
dbSNPrs80358253
ebirs80358253
HLIrs80358253
Exacrs80358253
Varsomers80358253
Maprs80358253
PheGenIrs80358253
hapmaprs80358253
1000 genomesrs80358253
hgdprs80358253
ensemblrs80358253
gopubmedrs80358253
geneviewrs80358253
scholarrs80358253
googlers80358253
pharmgkbrs80358253
gwascentralrs80358253
openSNPrs80358253
23andMers80358253
23andMe allrs80358253
SNP Nexus

SNPshotrs80358253
SNPdbers80358253
MSV3drs80358253
GWAS Ctlgrs80358253
Max Magnitude0
ClinVar
Risk rs80358253(C;C)
Alt rs80358253(C;C)
Reference rs80358253(A;A)
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.21121319T>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020226.3,


[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.