{{Rsnum
|rsid=121909752
|Chromosome=22
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=SEPT5
|position=19723980
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=GP1BB
}}{{omim
|id=138720
|rsnum=121909752
|variant=0003
}}{{ClinVar
|rsid=121909752
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=19711503
|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.19711503G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=138720.0003
|CLNSIG=5
|CLNCUI=CN071128
|CLNDBN=Bernard-Soulier syndrome, type B
|Disease=Bernard-Soulier syndrome
|CLNACC=RCV000017415.25
|Tags=PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=MedGen
|CLNDSDBID=CN071128
}}