{{Rsnum
|rsid=180177365
|Chromosome=8
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=VPS13B
|position=99642435
|Gene_s=VPS13B
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=180177365
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=100654663
|CHROM=8
|dbSNPBuildID=135
|SSR=0
|SAO=1
|VP=0x050068000000000002100100
|GENEINFO=VPS13B:157680
|GENE_NAME=VPS13B
|GENE_ID=157680
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000008.10:g.100654663C>T
|CLNORIGIN=1
|CLNSIG=5
|Tags=PM;PMC;OTHERKG;LSD
|CLNACC=RCV000058901.1
|CLNDBN=not provided
|Disease=not provided
}}{{PMID Auto
|PMID=16648375
|Title=Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.
|OA=1
}}