Mutation Details for c.3985G>C

cDNA Name c.3985G>C 
Protein Name p.Glu1329Gln 
Exon or Intron exon 25 
Other Details The above mutation was identified by SSCP analysis and characterized by direct DNA sequencing. The mutation was not found on 100 non-CF chromosomes. 
Contributors and Institutes
Prasad R - Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Singh M - Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Kaur G - Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Sharma N - Postgraduate Institute of Medical Education and Research, Chandigarh, India.
  
Submitted Phenotype Details This is a case of 11 year old male child with a history of frequent episodes of cough and difficulty in breathing since 2 years of age, abdominal distension on and off, voluminous oily stools and failure to thrive. Spirometry revealed restrictive lung function (FVC and FEV1 were 61 and 64% respectively) (pers. corr. Prasad). 
Reference  

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The Database was last updated at Apr 25, 2011