{{Rsnum
|rsid=180177359
|Chromosome=8
|Orientation=plus
|geno1=(-;-)
|geno2=(-;AAT)
|geno3=(AAT;AAT)
|Gene=VPS13B
|position=99556508
|Gene_s=VPS13B
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=180177359
|Reversed=0
|FwdALT=AAT
|REF=C
|ALT=CAAT
|RSPOS=100568733
|CHROM=8
|dbSNPBuildID=135
|SSR=0
|SAO=1
|VP=0x050068000000000002100200
|GENEINFO=VPS13B:157680
|GENE_NAME=VPS13B
|GENE_ID=157680
|WGT=0
|VC=DIV
|CLNALLE=1
|CLNHGVS=NC_000008.10:g.100568734_100568736dupAAT
|CLNORIGIN=1
|CLNSIG=5
|Tags=PM;PMC;OTHERKG;LSD
|CLNACC=RCV000058895.1
|CLNDBN=not provided
|Disease=not provided
}}{{PMID|16648375|OA=1
}} Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.