{{Rsnum
|rsid=120074131
|Chromosome=18
|Orientation=minus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=NPC1
|position=23533470
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=NPC1
}}{{omim
|id=607623
|rsnum=120074131
|variant=0009
}}{{ClinVar
|rsid=120074131
|Reversed=1
|FwdREF=G
|FwdALT=C
|REF=C
|ALT=G
|RSPOS=21113434
|CHROM=18
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=NPC1:4864
|GENE_NAME=NPC1
|GENE_ID=4864
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000018.9:g.21113434C>G
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=607623.0009
|CLNSIG=5
|CLNCUI=CN068593
|CLNDBN=NIEMANN-PICK DISEASE, TYPE C1, JUVENILE FORM
|Disease=NIEMANN-PICK DISEASE
|CLNACC=RCV000003099.1
|Tags=RV;PM;OTHERKG;LSD;OM
|CLNDSDB=MedGen
|CLNDSDBID=CN068593
}}