{{Rsnum
|rsid=28942073
|Gene=HEXB
|Chromosome=5
|position=74718804
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.001377
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=HEXB
}}{{omim
|desc=SANDHOFF DISEASE, JUVENILE TYPE
|id=606873
|rsnum=28942073
|variant=0007
}}
{{omim
|id=606873
|rsnum=28942073
|variant=0010
}}{{ClinVar
|rsid=28942073
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=74014629
|CHROM=5
|GMAF=0.0014
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050260000000040416110100
|GENEINFO=HEXB:3074
|GENE_NAME=HEXB
|GENE_ID=3074
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000005.9:g.74014629C>T
|CLNSRC=Emory University; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=1050; 606873.0007; 606873.0010
|CLNSIG=5
|CLNCUI=C1849321
|CLNDBN=Sandhoff disease, juvenile type; Sandhoff disease, adult type; not provided
|Disease=Sandhoff disease; Sandhoff disease; not provided
|CLNACC=RCV000004082.1; RCV000004084.1; RCV000079058.1
|Tags=PM;S3D;VLD;HD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9986; 0.001377
|CLNDSDB=MedGen
|CLNDSDBID=C1849321; C1849320
|COMMON=0
}}

{{on chip | 23andMe v4}}