{{Rsnum
|rsid=121909750
|Chromosome=22
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=SEPT5
|position=19724181
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=GP1BB
}}{{omim
|id=138720
|rsnum=121909750
|variant=0001
}}{{ClinVar
|rsid=121909750
|Reversed=0
|FwdREF=A
|FwdALT=G
|REF=A
|ALT=G
|RSPOS=19711704
|CHROM=22
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=SEPT5-GP1BB:100526833; GP1BB:2812
|GENE_NAME=SEPT5-GP1BB; GP1BB
|GENE_ID=100526833; 2812
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000022.10:g.19711704A>G
|CLNORIGIN=1
|CLNSIG=5
|Tags=PM;S3D;OTHERKG;LSD;OM
|CLNACC=RCV000017413.25
|CLNDBN=Macrothrombocytopenia, familial, Bernard-Soulier type
|CLNDSDB=MedGen
|CLNDSDBID=CN071127
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=138720.0001
|Disease=Macrothrombocytopenia
}}