{{Rsnum
|rsid=28942106
|Gene=NPC1
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Orientation=minus
|ReferenceAllele=A
|MissenseAllele=G
|Chromosome=18
|position=23535683
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=NPC1
}}{{omim
|desc=[[Niemann-Pick disease]], TYPE C1, JUVENILE FORM
|id=607623
|rsnum=28942106
|variant=0008
}}
{{ neighbor
| rsid = 28942105
| distance = 204
}}

{{ClinVar
|rsid=28942106
|Reversed=1
|FwdREF=A
|FwdALT=G
|REF=T
|ALT=C
|RSPOS=21115647
|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.21115647T>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=607623.0008
|CLNSIG=5
|CLNCUI=CN068593
|CLNDBN=NIEMANN-PICK DISEASE, TYPE C1, JUVENILE FORM
|Disease=NIEMANN-PICK DISEASE
|CLNACC=RCV000003098.1
|Tags=RV;PM;OTHERKG;LSD;OM
|CLNDSDB=MedGen
|CLNDSDBID=CN068593
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}