Gene: aryl hydrocarbon receptor interacting protein; AIP


Gene Symbol: AIP
OMIM: 605555
Chromosome location: 11q13.2

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Pituitary adenoma, growth hormone-secreting || c.910C>T

Phenotype:    Pituitary adenoma, growth hormone-secreting
Dna Change:    c.910C>T
Protein Change:    p.Arg304X
Mutation Type:    Substitution
Mutation Effect:    Nonsense
Location:    exon 6
Transcript:    NM_003977.2

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNAcentral7 patients/ 3 familiesNAOcchi 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