{{Rsnum
|rsid=180177362
|Chromosome=8
|Orientation=plus
|geno1=(-;-)
|geno2=(-;AGTGTGGCTCAAGTTCAA)
|geno3=(AGTGTGGCTCAAGTTCAA;AGTGTGGCTCAAGTTCAA)
|Gene=VPS13B
|position=99577553
|Gene_s=VPS13B
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=180177362
|Reversed=0
|FwdREF=AGTGTGGCTCAAGTTCAA
|FwdALT=
|REF=AAGTGTGGCTCAAGTTCAA
|ALT=A
|RSPOS=100589780
|CHROM=8
|dbSNPBuildID=135
|SSR=0
|SAO=0
|VP=0x050068000000000002110200
|GENEINFO=VPS13B:157680
|GENE_NAME=VPS13B
|GENE_ID=157680
|WGT=0
|VC=DIV
|CLNALLE=1
|CLNHGVS=NC_000008.10:g.100589781_100589798del18
|CLNORIGIN=1
|CLNSIG=5
|Tags=PM;PMC;OTHERKG;LSD;OM
|CLNACC=RCV000050084.1; RCV000058898.1
|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
}}