Mutation Details for c.3136G>T

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

cDNA Name c.3136G>T 
Protein Name p.Glu1046X 
Exon or Intron  
Other Details  
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 female CF patient carrying F508del on the other allele. She was diagnosed at the age of 15 months. Sweat chloride concentration 112 mmol/l, rectal prolapse, diarrhoea, fecal elastase < 15 µg/g, cough  

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The Database was last updated at Apr 25, 2011