Mutation Details for c.2845C>T

cDNA Name c.2845C>T 
Protein Name p.His949Tyr 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name H949Y 
Other Details 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. 
Contributors Costes B, Ghanem N, Girodon E, Goossens M   1993-05-17
Institute Unite de Recherches en Genetique Moleculaire et en Hematologie Creteil, France 
Submitted Phenotype Details 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)  
Reference Ghanem et al. 1994 

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The Database was last updated at Apr 25, 2011