Mutation Details for c.3956C>A

cDNA Name c.3956C>A 
Protein Name p.Ala1319Glu 
Exon or Intron exon 24 
Legacy Exon or Intron exon 21 
Legacy Name A1319E 
Other Details This mutation was identified in trans of deltaF508 in Polish infant during CF newborn screening program. No other mutation was found after sequencing exons: 7,10,11,13,21. Mutations 3849+10kbC>T, dele2,3(21kb) and R117H were also exluded. 
Contributors Norek A., Sobczynnska-Tomaszewska A., Wertheim K., Czerska K, Oltarzewski M., Sabds D., Bal J.   2008-09-17
Institute Institute of Mother and Child, Department of Medical Genetics, Warsaw, Poland 
Submitted Phenotype Details Girl with typical form of CF: Abnormal result of sweat test: 1. Cl-=77.4 mmol/L, 2. Cl-=77.5 mmol/L. Pseudomonas aeruginosa isolated from respiratory secretions. Observed abnormality in chest X-ray pictures. Pancreas Sufficient (PS).  

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The Database was last updated at Apr 25, 2011