{{Rsnum
|rsid=80358254
|Chromosome=18
|Orientation=minus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=NPC1
|position=23538609
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=NPC1
}}{{omim
|id=607623
|rsnum=80358254
|variant=0004
}}
{{omim
|id=607623
|rsnum=80358254
|variant=0013
}}{{ClinVar
|rsid=80358254
|Reversed=1
|FwdREF=G
|FwdALT=A,C,T
|REF=C
|ALT=A,G,T
|RSPOS=21118573
|CHROM=18
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050168000000000002110104
|GENEINFO=NPC1:4864
|GENE_NAME=NPC1
|GENE_ID=4864
|WGT=0
|VC=SNV
|CLNALLE=1; 2; 3
|CLNHGVS=NC_000018.9:g.21118573C>A; NC_000018.9:g.21118573C>G; NC_000018.9:g.21118573C>T
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK1296; 607623.0004; 607623.0013
|CLNSIG=5
|CLNCUI=CN032419
|CLNDBN=Niemann-Pick disease, type D; Niemann-Pick disease type C1
|Disease=Niemann-Pick disease; Niemann-Pick disease type C1
|CLNACC=RCV000003094.1; RCV000020230.2; RCV000003103.2; RCV000020229.2
|Tags=RV;PM;PMC;SLO;OTHERKG;LSD;OM;NOV
|CLNDSDB=MedGen:SNOMED_CT; GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0268247:18927009; NBK1296:C3179455:257220:646:66751000
}}{{PMID Auto
|PMID=9245994
|Title=Linkage of Niemann-Pick disease type D to the same region of human chromosome 18 as Niemann-Pick disease type C.
|OA=1
}}

{{PMID Auto
|PMID=9634529
|Title=The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1.
|OA=1
}}

{{PMID Auto
|PMID=4795418
|Title=A hereditary disorder with dementia, spastic dysarthria, vertical eye movement paresis, gait disturbance, splenomegaly, and abnormal copper metabolism.
}}

{{PMID Auto
|PMID=11333381
|Title=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.
|OA=1
}}

{{PMID Auto
|PMID=15596783
|Title=Heterozygous Niemann-Pick disease type C presenting with tremor.
}}