{{Rsnum
|rsid=137852781
|Chromosome=6
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=EFHC1
|position=52454254
|Gene_s=EFHC1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=608815
|variant=0008
|rsnum=137852781
}}{{ClinVar
|rsid=137852781
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=52319052
|CHROM=6
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=EFHC1:114327
|GENE_NAME=EFHC1
|GENE_ID=114327
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000006.11:g.52319052C>T
|CLNORIGIN=1
|CLNSIG=255
|Tags=PM;S3D;OTHERKG;LSD;OM
|CLNACC=RCV000002151.1
|CLNDBN=Myoclonic epilepsy, juvenile 1
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=608815.0008
|Disease=Myoclonic epilepsy
}}