{{Rsnum
|rsid=121918317
|Chromosome=9
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=STXBP1
|position=127682489
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=STXBP1
}}{{omim
|id=602926
|rsnum=121918317
|variant=0001
}}{{ClinVar
|rsid=121918317
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=130444768
|CHROM=9
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=STXBP1:6812
|GENE_NAME=STXBP1
|GENE_ID=6812
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000009.11:g.130444768G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=602926.0001
|CLNSIG=5
|CLNCUI=C2677326
|CLNDBN=Early infantile epileptic encephalopathy 4
|Disease=Early infantile epileptic encephalopathy 4
|CLNACC=RCV000007118.1
|Tags=PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C2677326:612164:1934
}}