{{Rsnum
|rsid=397514044
|Chromosome=3
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=TMEM43
|position=14130912
|Gene_s=TMEM43
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=3
|CLNACC=RCV000033854.2
|CLNALLE=1
|CLNDBN=Emery-Dreifuss muscular dystrophy 7, autosomal dominant
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=CN168055:614302:261
|CLNHGVS=NC_000003.11:g.14172412G>A
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=612048.0002
|Disease=Emery-Dreifuss muscular dystrophy 7
|FwdALT=A
|FwdREF=G
|GENEINFO=TMEM43:79188
|GENE_ID=79188
|GENE_NAME=TMEM43
|REF=G
|RSPOS=14172412
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=136
|rsid=397514044
}}