{{Rsnum
|rsid=397515490
|Chromosome=1
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=SZT2
|position=43423153
|Gene_s=SZT2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=1
|CLNACC=RCV000057519.1
|CLNALLE=1
|CLNDBN=Early infantile epileptic encephalopathy 18
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=CN180198:615476:ORPHA369894
|CLNHGVS=NC_000001.11:g.43423153C>T
|CLNSIG=5
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNSRCID=NM_015284.3:c.2092C>T; 615463.0002
|Disease=Early infantile epileptic encephalopathy 18
|FwdALT=T
|FwdREF=C
|GENEINFO=SZT2:23334
|GENE_ID=23334
|GENE_NAME=SZT2
|REF=C
|RSPOS=43423153
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;NSN;REF;ASP;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000605000002110100
|WGT=1
|dbSNPBuildID=136
|rsid=397515490
|CLNORIGIN=1
}}