{{Rsnum
|rsid=80358260
|Chromosome=14
|Orientation=minus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=NPC2
|position=74493217
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=ISCA2,NPC2
}}{{omim
|id=601015
|rsnum=80358260
|variant=0001
}}{{ClinVar
|rsid=80358260
|Reversed=1
|FwdREF=G
|FwdALT=T
|REF=C
|ALT=A
|RSPOS=74959920
|CHROM=14
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050368000000000002110100
|GENEINFO=ISCA2:122961; NPC2:10577
|GENE_NAME=ISCA2; NPC2
|GENE_ID=122961; 10577
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000014.8:g.74959920C>A
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK1296; 601015.0001
|CLNSIG=5
|CLNCUI=C1843366; C1843366
|CLNDBN=Niemann-Pick disease type C2
|Disease=Niemann-Pick disease type C2
|CLNACC=RCV000008998.2
|Tags=RV;PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1296:C1843366:607625:646
}}{{PMID Auto
|PMID=11125141
|Title=Identification of HE1 as the second gene of Niemann-Pick C disease.
}}

{{PMID Auto
|PMID=11567215
|Title=Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.
|OA=1
}}

{{PMID Auto
|PMID=17470133
|Title=Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2.
}}