{{Rsnum
|rsid=80358258
|Chromosome=18
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=NPC1
|position=23536758
|Gene_s=NPC1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=18
|CLNACC=RCV000020231.2
|CLNALLE=1
|CLNDBN=Niemann-Pick disease type C1
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1296:C3179455:257220:646:66751000
|CLNHGVS=NC_000018.9:g.21116722C>T
|CLNORIGIN=0
|CLNSIG=5
|CLNSRC=GeneReviews
|CLNSRCID=NBK1296
|Disease=Niemann-Pick disease type C1
|FwdALT=A
|FwdREF=G
|GENEINFO=NPC1:4864
|GENE_ID=4864
|GENE_NAME=NPC1
|REF=C
|RSPOS=21116722
|Reversed=1
|SAO=1
|SSR=0
|Tags=RV;PM;PMC;SLO;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050168000000000002110100
|WGT=0
|dbSNPBuildID=132
|rsid=80358258
}}{{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
}}