{{Rsnum
|rsid=80358268
|Chromosome=14
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=NPC2
|position=74486324
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=NPC2
}}{{omim
|id=601015
|rsnum=80358268
|variant=0003
}}{{ClinVar
|rsid=80358268
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=74953027
|CHROM=14
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050168000000000002110100
|GENEINFO=NPC2:10577
|GENE_NAME=NPC2
|GENE_ID=10577
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000014.8:g.74953027C>T
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK1296; 601015.0003
|CLNSIG=5
|CLNCUI=C1843366; C1843366
|CLNDBN=Niemann-Pick disease type C2
|Disease=Niemann-Pick disease type C2
|CLNACC=RCV000009000.1
|Tags=RV;PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1296:C1843366:607625:646
}}{{PMID Auto
|PMID=11567215
|Title=Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.
|OA=1
}}