Gene Symbol: VPS13A
OMIM: 605978Chromosome location: 9q21.2
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Phenotype: | Cohen syndrome |
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| Dna Change: | EX70_EX73del (37-KB DEL) |
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| Protein Change: | |
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| Mutation Type: | Deletion |
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| Mutation Effect: | |
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| Location: | |
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| Transcript: | NM_033305.2 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Greece | NA | NA | 1 patient | 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 |
References
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