{{Rsnum
|rsid=80358262
|Chromosome=14
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=NPC2
|position=74486386
|Gene_s=NPC2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=80358262
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=74953089
|CHROM=14
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050360000000000002110100
|GENEINFO=NPC2:10577
|GENE_NAME=NPC2
|GENE_ID=10577
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000014.8:g.74953089G>A
|CLNSRC=GeneReviews
|CLNORIGIN=0
|CLNSRCID=NBK1296
|CLNSIG=5
|CLNCUI=C1843366
|CLNDBN=Niemann-Pick disease type C2
|Disease=Niemann-Pick disease type C2
|CLNACC=RCV000020643.1
|Tags=RV;PM;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1296:C1843366:607625:646
}}