Gene Symbol: ABHD5
OMIM: 604780Chromosome location: 3p21.33
Related informations: NCBI Gene Genome Browser UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Phenotype: | Chanarin-Dorfman syndrome |
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| Dna Change: | c.773-1G>A |
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| Protein Change: | splice site acceptor |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Splice site |
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| Location: | intron 4 |
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| Transcript: | NM_016006.4 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Tunisia | NA | NA | 2 families | NA | Lefèvre C et al., 2001Lefèvre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, Lakhdar H, Wollenberg A, Verret JL, Weissenbach J, Ozgüc M, Lathrop M, Prud'homme JF, Fischer J, . Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome.. Am. J. Hum. Genet.. 2001; 69(5):1002-12 |
References
Lefèvre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, Lakhdar H, Wollenberg A, Verret JL, Weissenbach J, Ozgüc M, Lathrop M, Prud'homme JF, Fischer J, Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome.Am. J. Hum. Genet.. 2001; 69(5):1002-12