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rs80358254

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80358254(G;T)
Make rs80358254(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position23538609
GeneNPC1
is asnp
is mentioned by
dbSNPrs80358254
ebirs80358254
HLIrs80358254
Exacrs80358254
Varsomers80358254
Maprs80358254
PheGenIrs80358254
hapmaprs80358254
1000 genomesrs80358254
hgdprs80358254
ensemblrs80358254
gopubmedrs80358254
geneviewrs80358254
scholarrs80358254
googlers80358254
pharmgkbrs80358254
gwascentralrs80358254
openSNPrs80358254
23andMers80358254
23andMe allrs80358254
SNP Nexus

SNPshotrs80358254
SNPdbers80358254
MSV3drs80358254
GWAS Ctlgrs80358254
Max Magnitude0
OMIM607623
Desc
Variant0004
Relatedalso
OMIM607623
Desc
Variant0013
Relatedalso
ClinVar
Risk rs80358254(A,C,T;A,C,T)
Alt rs80358254(A,C,T;A,C,T)
Reference rs80358254(G;G)
Significance Other
Disease Niemann-Pick disease Niemann-Pick disease type C1
Variation info
Gene NPC1
CLNDBN Niemann-Pick disease, type D Niemann-Pick disease type C1
Reversed 1
HGVS NC_000018.9:g.21118573C>A; NC_000018.9:g.21118573C>G; NC_000018.9:g.21118573C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003094.2, RCV000020230.3, RCV000003103.6, RCV000020229.4,


[PMID 9245994OA-icon.png] Linkage of Niemann-Pick disease type D to the same region of human chromosome 18 as Niemann-Pick disease type C.


[PMID 9634529OA-icon.png] The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1.


[PMID 4795418] A hereditary disorder with dementia, spastic dysarthria, vertical eye movement paresis, gait disturbance, splenomegaly, and abnormal copper metabolism.


[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 15596783] Heterozygous Niemann-Pick disease type C presenting with tremor.