{{Rsnum
|rsid=387907055
|Chromosome=11
|position=124924881
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=HEPACAM
|Gene_s=HEPACAM
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=11
|CLNACC=RCV000023909.1; RCV000055997.1
|CLNALLE=1
|CLNDBN=Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation; Megalencephalic leukoencephalopathy with subcortical cysts 2a
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1535:C3151356:613926:2478; NBK1535:C3151355:613925:2478
|CLNHGVS=NC_000011.9:g.124794777G>A
|CLNSIG=5
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNSRCID=NBK1535; 611642.0008
|Disease=Megalencephalic leukoencephalopathy with subcortical cysts 2b; Megalencephalic leukoencephalopathy with subcortical cysts 2a
|FwdALT=T
|FwdREF=C
|REF=G
|RSPOS=124794777
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=387907055
|GENEINFO=HEPACAM:220296
|GENE_ID=220296
|GENE_NAME=HEPACAM
}}