{{Rsnum
|rsid=1788799
|Gene=NPC1
|Chromosome=18
|position=23544981
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=G
|GMAF=0.1809
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=NPC1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 10.8 | 44.6 | 44.6
| HCB | 0.0 | 14.3 | 85.7
| JPT | 0.0 | 7.0 | 93.0
| YRI | 1.6 | 7.9 | 90.5
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 14.3 | 85.7
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=1788799
|allele=G
|frequency=0.667
|uid=1103645153888
|type=homozygous_SNP
|hugo=NPC1
|ensembl gene=ENSG00000141458
|ensembl transcript=ENST00000269228
|sift=TOLERATED
|disease=Defects in NPC1 are the cause of Niemann-Pick disease type D (NPD) (MIM:257220); also known as Niemann-Pick disease without sphingomyelinase deficiency, or Nova Scotian type. Because of evidence from biochemical changes, lack of complementation, and linkage mapping to the same chromosome site, NPD and NPC1 are considered to be allelic disorders.
}}

{{ClinVar
|rsid=1788799
|Reversed=0
|FwdREF=C
|FwdALT=G
|REF=C
|ALT=G
|RSPOS=21124945
|CHROM=18
|GMAF=0.1818
|dbSNPBuildID=89
|SSR=0
|SAO=1
|VP=0x05016800000015051f100100
|GENEINFO=NPC1:4864
|GENE_NAME=NPC1
|GENE_ID=4864
|WGT=0
|VC=SNV
|CLNALLE=0; 1
|CLNHGVS=NC_000018.9:g.21124945C\x3d; NC_000018.9:g.21124945C>G
|CLNORIGIN=0
|CLNSIG=2
|Tags=PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD
|CAF=0.1809; 0.8191
|CLNACC=RCV000020225.2; RCV000078467.1
|CLNDBN=Niemann-Pick disease type C1; AllHighlyPenetrant
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; MedGen
|CLNDSDBID=NBK1296:C3179455:257220:646:66751000; CN169374
|CLNSRC=GeneReviews; Emory University
|CLNSRCID=NBK1296; 1564
|COMMON=1
|Disease=Niemann-Pick disease type C1; AllHighlyPenetrant
}}

{{PMID Auto
|PMID=18834923
|Title=Variation in NPC1, the gene encoding Niemann-Pick C1, a protein involved in intracellular cholesterol transport, is associated with Alzheimer disease and/or aging in the Polish population.
|OA=1
}}

{{GET Evidence
|gene=NPC1
|aa_change=Met642Ile
|aa_change_short=M642I
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1788799
|overall_frequency_n=7935
|overall_frequency_d=10758
|overall_frequency=0.737591
|n_genomes=35
|n_genomes_annotated=0
|n_haplomes=54
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-1
|autoscore=3
|n_web_uneval=1
}}

{{PMID Auto
|PMID=23153210
|Title=Mammalian NPC1 genes may undergo positive selection and human polymorphisms associate with type 2 diabetes
|OA=1
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Illumina Human 1M}}