{{Rsnum
|rsid=121908186
|Chromosome=1
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=SEPN1
|position=25812763
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=SEPN1
}}{{omim
|id=606210
|rsnum=121908186
|variant=0005
}}{{ClinVar
|rsid=121908186
|Reversed=0
|FwdREF=G
|FwdALT=C
|REF=G
|ALT=C
|RSPOS=25812763
|CHROM=1
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000a05000002110100
|GENEINFO=SEPN1:57190
|GENE_NAME=SEPN1
|GENE_ID=57190
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.25812763G>C
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_020451.2:c.1358G>C; 606210.0005
|CLNSIG=5
|CLNCUI=C0410180
|CLNDBN=Eichsfeld type congenital muscular dystrophy
|Disease=Eichsfeld type congenital muscular dystrophy
|CLNACC=RCV000004750.1
|Tags=PM;NSM;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT
|CLNDSDBID=NBK1290:C0410180:602771:240063002
}}