{{Rsnum
|rsid=121908185
|Chromosome=1
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=SEPN1
|position=25813890
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=SEPN1
}}{{omim
|id=606210
|rsnum=121908185
|variant=0004
}}{{ClinVar
|rsid=121908185
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=25813890
|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.25813890G>A
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_020451.2:c.1397G>A; 606210.0004
|CLNSIG=5
|CLNCUI=C0410180
|CLNDBN=Eichsfeld type congenital muscular dystrophy
|Disease=Eichsfeld type congenital muscular dystrophy
|CLNACC=RCV000004749.1
|Tags=PM;NSM;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT
|CLNDSDBID=NBK1290:C0410180:602771:240063002
}}