Mutation Details for c.1660_1661insA

cDNA Name c.1660_1661insA 
Protein Name p.Ala554AspfsX14 
Exon or Intron exon 12 
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 8 years old male had breathing problem since 5 months of age. He was on treatment for bronchial asthma and had taken antitubercular treatment despite Montaoux and culture tests negative. He was PI, sweat chloride was 98 mEq/L and sputum culture was positive for P aeruginosa (pers. corr. Prasad). 
Reference  

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The Database was last updated at Apr 25, 2011