{{Rsnum
|rsid=80358267
|Chromosome=14
|Orientation=minus
|geno1=(-;-)
|geno2=(-;G)
|geno3=(G;G)
|Gene=NPC2
|position=74493248
|Gene_s=NPC2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=80358267
|Reversed=1
|FwdREF=G
|FwdALT=
|REF=GC
|ALT=G
|RSPOS=74959950
|CHROM=14
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050160000000000002110200
|GENEINFO=ISCA2:122961; NPC2:10577
|GENE_NAME=ISCA2; NPC2
|GENE_ID=122961; 10577
|WGT=0
|VC=DIV
|CLNALLE=1
|CLNHGVS=NC_000014.8:g.74959951delC
|CLNSRC=GeneReviews
|CLNORIGIN=0
|CLNSRCID=NBK1296
|CLNSIG=5
|CLNCUI=C1843366
|CLNDBN=Niemann-Pick disease type C2
|Disease=Niemann-Pick disease type C2
|CLNACC=RCV000020645.1
|Tags=RV;PM;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1296:C1843366:607625:646
}}