OMIM: 102200Inheritance: Autosomal dominant
Classification: Neoplasms
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | AIP |
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| Dna Change: | c.910C>T |
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| Protein Change: | p.Arg304X |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Nonsense |
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| Location: | exon 6 |
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| Transcript: | NM_003977.2 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | central | 7 patients/ 3 families | NA | Occhi G et al., 2010Occhi G, Jaffrain-Rea ML, Trivellin G, Albiger N, Ceccato F, De Menis E, Angelini M, Ferasin S, Beckers A, Mantero F, Scaroni C, . The R304X mutation of the aryl hydrocarbon receptor interacting protein gene in familial isolated pituitary adenomas: Mutational hot-spot or founder effect?. J. Endocrinol. Invest.. 2010; 33(11):800-5 |
References
Occhi G, Jaffrain-Rea ML, Trivellin G, Albiger N, Ceccato F, De Menis E, Angelini M, Ferasin S, Beckers A, Mantero F, Scaroni C, The R304X mutation of the aryl hydrocarbon receptor interacting protein gene in familial isolated pituitary adenomas: Mutational hot-spot or founder effect?J. Endocrinol. Invest.. 2010; 33(11):800-5