{{Rsnum
|rsid=121908187
|Chromosome=1
|Orientation=plus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=SEPN1
|position=25812789
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=SEPN1
}}{{omim
|id=606210
|rsnum=121908187
|variant=0007
}}{{ClinVar
|rsid=121908187
|Reversed=0
|FwdREF=T
|FwdALT=G
|REF=T
|ALT=G
|RSPOS=25812789
|CHROM=1
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000205000002110100
|GENEINFO=SEPN1:57190
|GENE_NAME=SEPN1
|GENE_ID=57190
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.25812789T>G
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_020451.2:c.1384T>G; 606210.0007
|CLNSIG=5
|CLNCUI=C0410180
|CLNDBN=Eichsfeld type congenital muscular dystrophy
|Disease=Eichsfeld type congenital muscular dystrophy
|CLNACC=RCV000004752.1
|Tags=PM;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT
|CLNDSDBID=NBK1290:C0410180:602771:240063002
}}