Mutation Details for c.2845C>T
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cDNA Name
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c.2845C>T
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Protein Name
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p.His949Tyr
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Exon or Intron
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exon 17
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Legacy Exon or Intron
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exon 15
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H949Y
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Other Details
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The nucleotide change C->T at position 2977 (codon 949 in exon 15, H949Y), has been found in a 60 years old woman with no manifestation of gastrointestinal disease but having a bronchial dilatation.
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Contributors
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Costes B,
Ghanem N,
Girodon E,
Goossens M
1993-05-17
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Institute
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Unite de Recherches en Genetique Moleculaire et en Hematologie
Creteil, France
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Submitted Phenotype Details
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The H949Y mutation was found in a 70 year-old patient, also carrying 3791T/C(T1220I)on the other allele, diagnosed at 55y, PS, with moderate lung disease, negative sweat chloride, bronchial dilatation and infertility. (pers. corr. Girodon)
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Reference
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Ghanem et al. 1994
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