{{Rsnum
|rsid=80358257
|Gene=NPC1
|Chromosome=18
|position=23538564
|Orientation=minus
|GMAF=0.0004591
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=NPC1
}}{{omim
|id=607623
|rsnum=80358257
|variant=0012
}}{{ClinVar
|rsid=80358257
|Reversed=1
|FwdREF=C
|FwdALT=G
|REF=G
|ALT=C
|RSPOS=21118528
|CHROM=18
|GMAF=0.0005
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050168000000000016110100
|GENEINFO=NPC1:4864
|GENE_NAME=NPC1
|GENE_ID=4864
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000018.9:g.21118528G>C
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK1296; 607623.0012
|CLNSIG=5
|CLNCUI=CN032419; CN032419
|CLNDBN=Niemann-Pick disease type C1
|Disease=Niemann-Pick disease type C1
|CLNACC=RCV000003100.2
|Tags=RV;PM;PMC;SLO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1296:C3179455:257220:646:66751000
|COMMON=0
}}{{PMID|11333381|OA=1
}} 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|11349231|OA=1
}} Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.

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