{{Rsnum
|rsid=121918541
|Chromosome=19
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=STXBP2
|position=7642081
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=STXBP2
}}{{omim
|id=601717
|rsnum=121918541
|variant=0004
}}{{ClinVar
|rsid=121918541
|Reversed=0
|FwdREF=T
|FwdALT=C
|REF=T
|ALT=C
|RSPOS=7706967
|CHROM=19
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=STXBP2:6813
|GENE_NAME=STXBP2
|GENE_ID=6813
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000019.9:g.7706967T>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=601717.0004
|CLNSIG=5
|CLNCUI=C2751293
|CLNDBN=Hemophagocytic lymphohistiocytosis, familial, 5
|Disease=Hemophagocytic lymphohistiocytosis
|CLNACC=RCV000008311.2
|Tags=PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1444:C2751293:613101:540
}}