{{Rsnum
|rsid=121908188
|Chromosome=1
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=SEPN1
|position=25809753
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=SEPN1
}}{{omim
|id=606210
|rsnum=121908188
|variant=0008
}}{{ClinVar
|rsid=121908188
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=25809753
|CHROM=1
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050168000a05000002110100
|GENEINFO=SEPN1:57190
|GENE_NAME=SEPN1
|GENE_ID=57190
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.25809753G>A
|CLNSRC=ClinVar; Emory University; GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_020451.2:c.943G>A; 6366; NBK1259; 606210.0008
|CLNSIG=5
|CLNCUI=C0410180; C0546264
|CLNDBN=Eichsfeld type congenital muscular dystrophy; Congenital myopathy with fiber type disproportion; not provided
|Disease=Eichsfeld type congenital muscular dystrophy; Congenital myopathy with fiber type disproportion; not provided
|CLNACC=RCV000004753.1; RCV000004754.2; RCV000082020.1
|Tags=PM;PMC;SLO;NSM;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT; GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1290:C0410180:602771:240063002; NBK1259:C0546264:255310:ORPHA2020:240084007
}}{{PMID Auto
|PMID=16365872
|Title=SEPN1: associated with congenital fiber-type disproportion and insulin resistance.
}}