{{Rsnum
|rsid=121908183
|Chromosome=1
|Orientation=plus
|geno1=(-;-)
|geno2=(-;TGA)
|geno3=(TGA;TGA)
|Gene=SEPN1
|position=25812789
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=SEPN1
}}{{omim
|id=606210
|rsnum=121908183
|variant=0002
}}{{ClinVar
|rsid=121908183
|Reversed=0
|FwdREF=TGA
|FwdALT=
|REF=CTGA
|ALT=C
|RSPOS=26139279
|CHROM=1
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000000000002110200
|GENEINFO=SEPN1:57190
|GENE_NAME=SEPN1
|GENE_ID=57190
|WGT=0
|VC=DIV
|CLNALLE=1
|CLNHGVS=NC_000001.10:g.26139280_26139282delTGA
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=606210.0002
|CLNSIG=5
|CLNCUI=C0410180
|CLNDBN=Eichsfeld type congenital muscular dystrophy
|Disease=Eichsfeld type congenital muscular dystrophy
|CLNACC=RCV000004747.1
|Tags=PM;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1290:NBK1291:C0410180:602771:598:240063002
}}