Mutation Details for c.1785G>A
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cDNA Name
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c.1785G>A
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Protein Name
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p.Met595Ile
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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M595I
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Other Details
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This mutation was identified by sequencing on one Spanish patient with suspect of a mild form of CF with "allergic rhinitis-bronchial asthma" who also had [delta]F508 mutation.
It had never been observed ina 230 chromosomes of previously sequenced Galician subjects.
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Contributors
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Rana-Diez P, Barros F, Sirvent J, Carracedo A.
2007-02-09
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Institute
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Fundacion publica Galega de Medicina Xenomica
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Submitted Phenotype Details
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The patient (male, 15y) was diagnosed with "allergic rhinitis-bronchial asthma" plus sensitivity to dust mites at 8y, with high sweat chloride test determination(>90mEq/L).
He does not present clinical signs of respiratory infection or digestive pathology. He only presents sporadic episodes of bronchial asthma.
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Reference
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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