{{Rsnum
|rsid=121908553
|Chromosome=17
|Orientation=minus
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene=SCN4A
|position=63941957
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=SCN4A
}}{{omim
|id=603967
|rsnum=121908553
|variant=0018
}}{{ClinVar
|rsid=121908553
|Reversed=1
|FwdREF=T
|FwdALT=A
|REF=A
|ALT=T
|RSPOS=62019317
|CHROM=17
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=SCN4A:6329
|GENE_NAME=SCN4A
|GENE_ID=6329
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.62019317A>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=603967.0018
|CLNSIG=5
|CLNCUI=C1850599
|CLNDBN=Congenital myasthenic syndrome, acetazolamide-responsive
|Disease=Congenital myasthenic syndrome
|CLNACC=RCV000006277.2
|Tags=RV;PM;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1850599:614198:590
}}