{{Rsnum
|rsid=119103248
|Chromosome=6
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=SYNE1
|position=152140027
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=SYNE1
}}{{omim
|id=608441
|rsnum=119103248
|variant=0010
}}{{ClinVar
|rsid=119103248
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=152461162
|CHROM=6
|GMAF=0.0009
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=050060000a05040016110100
|GENEINFO=SYNE1:23345
|GENE_NAME=SYNE1
|GENE_ID=23345
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000006.11:g.152461162C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=608441.0010
|CLNSIG=5
|CLNCUI=C2751807
|CLNDBN=Emery-dreifuss muscular dystrophy 4, autosomal dominant
|Disease=Emery-dreifuss muscular dystrophy 4
|CLNACC=SCV000022582.1
|Tags=RV;PM;NSM;REF;ASP;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM
}}