Mutation Details for c.2803_2813delCTACCACTGGT

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.2803_2813delCTACCACTGGT 
Protein Name p.Leu935AlafsX36 
Exon or Intron exon 17 
Other Details Legacy name: 2935del11 
Contributors and Institutes
Krenkova P., Piskáčková T., Macek Jr. M - Department of Biology and Medical Genetics, 2nd Faculty of Medicine and Faculty Hospital Motol, Prague, Czech Republic -
Submitted Phenotype Details Found in one Czech male patient carrying F508del on the other allele. He was diagnosed at 3 years of age, sweat chloride concentration 101 mmol/l, pancreatic insufficient, colonized by Pseudomonas aeruginosa and Burholderia cepacia, diabetes mellitus, astenozoospermia, bronchiectasis, pansinusitis, malnutrition.  

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The Database was last updated at Apr 25, 2011