Gene Symbol: VPS13B
OMIM: 607817Chromosome location: 8q22.2
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Phenotype: | Cohen syndrome |
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| Dna Change: | EX6-16DEL |
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| Protein Change: | |
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| Mutation Type: | Deletion |
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| Mutation Effect: | |
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| Location: | exons 6 to 16 |
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| Transcript: | NM_152564.4 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | Center and South | 3 patients | NA | Parri V et al., 2010Parri V, Katzaki E, Uliana V, Scionti F, Tita R, Artuso R, Longo I, Boschloo R, Vijzelaar R, Selicorni A, Brancati F, Dallapiccola B, Zelante L, Hamel CP, Sarda P, Lalani SR, Grasso R, Buoni S, Hayek J, Servais L, de Vries BB, Georgoudi N, Nakou S, Petersen MB, Mari F, Renieri A, Ariani F, . High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.. Eur. J. Hum. Genet.. 2010; 18(10):1133-40 |
| Phenotype: | Cohen syndrome |
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| Dna Change: | c.11125delC |
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| Protein Change: | p.Leu3709SerfsX61 |
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| Mutation Type: | Deletion |
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| Mutation Effect: | Frameshift |
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| Location: | exon 58 |
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| Transcript: | NM_017890.4 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | Venetos lowland (between Padova and Tagliamento) | 3 patients /3 unrelated families | NA | Katzaki E et al., 2007Katzaki E, Pescucci C, Uliana V, Papa FT, Ariani F, Meloni I, Priolo M, Selicorni A, Milani D, Fischetto R, Celle ME, Grasso R, Dallapiccola B, Brancati F, Bordignon M, Tenconi R, Federico A, Mari F, Renieri A, Longo I, . Clinical and molecular characterization of Italian patients affected by Cohen syndrome.. J. Hum. Genet.. 2007; 52(12):1011-7 |
References
Katzaki E, Pescucci C, Uliana V, Papa FT, Ariani F, Meloni I, Priolo M, Selicorni A, Milani D, Fischetto R, Celle ME, Grasso R, Dallapiccola B, Brancati F, Bordignon M, Tenconi R, Federico A, Mari F, Renieri A, Longo I, Clinical and molecular characterization of Italian patients affected by Cohen syndrome.J. Hum. Genet.. 2007; 52(12):1011-7
Parri V, Katzaki E, Uliana V, Scionti F, Tita R, Artuso R, Longo I, Boschloo R, Vijzelaar R, Selicorni A, Brancati F, Dallapiccola B, Zelante L, Hamel CP, Sarda P, Lalani SR, Grasso R, Buoni S, Hayek J, Servais L, de Vries BB, Georgoudi N, Nakou S, Petersen MB, Mari F, Renieri A, Ariani F, High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.Eur. J. Hum. Genet.. 2010; 18(10):1133-40