Mutation Details for c.206T>G

cDNA Name c.206T>G 
Protein Name p.Leu69Arg 
Exon or Intron exon 3 
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 - Postgraduate Institute of Medical Education and Research, Chandigarh, India.
  
Submitted Phenotype Details This was a known case of 3 month old baby operated for tracheo-esophageal fistula with esophageal atresia. He was presented with vomiting and cough since one month, rapid breathing and chest indrawing. He was pancreatic sufficient and sweat chloride levels were 63.8 mEq/L. Blood culture was positive for K. pneumonae  
Reference  

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The Database was last updated at Apr 25, 2011