{{Rsnum
|rsid=180177363
|Chromosome=8
|Orientation=plus
|geno1=(-;-)
|geno2=(-;AG)
|geno3=(AG;AG)
|Gene=VPS13B
|position=99641942
|Gene_s=VPS13B
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=180177363
|Reversed=0
|FwdALT=AG
|REF=T
|ALT=TAG
|RSPOS=100654166
|CHROM=8
|dbSNPBuildID=135
|SSR=0
|SAO=1
|VP=0x050068000000000002110200
|GENEINFO=VPS13B:157680
|GENE_NAME=VPS13B
|GENE_ID=157680
|WGT=0
|VC=DIV
|CLNALLE=1
|CLNHGVS=NC_000008.10:g.100654169_100654170dupAG
|CLNORIGIN=1
|CLNSIG=5
|Tags=PM;PMC;OTHERKG;LSD;OM
|CLNACC=RCV000050086.1; RCV000058899.1
|CLNDBN=Cohen syndrome; not provided
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1482:C0265223:216550:193:56604005
|Disease=Cohen syndrome; not provided
}}{{PMID Auto
|PMID=16648375
|Title=Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.
|OA=1
}}{{PMID Auto
|PMID=12730828
|Title=Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.
|OA=1
}}