Gene Symbol: ATP7B
OMIM: 606882Chromosome location: 13q14.3
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Phenotype: | Wilson disease |
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| Dna Change: | 15-BP DEL, NT-441 |
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| Protein Change: | |
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| Mutation Type: | Deletion |
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| Mutation Effect: | Frameshift |
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| Location: | |
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| Transcript: | NM_000053.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | Sardinia | NA | NA | Loudianos G et al., 1999Loudianos G, Dessi V, Lovicu M, Angius A, Figus A, Lilliu F, De Virgiliis S, Nurchi AM, Deplano A, Moi P, Pirastu M, Cao A, . Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.. Hum. Mutat.. 1999; 14(4):294-303 |
References
Loudianos G, Dessi V, Lovicu M, Angius A, Figus A, Lilliu F, De Virgiliis S, Nurchi AM, Deplano A, Moi P, Pirastu M, Cao A, Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.Hum. Mutat.. 1999; 14(4):294-303