Mutation Details for c.2789delG

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

cDNA Name c.2789delG 
Protein Name p.Gly930AspfsX12 
Exon or Intron  
Other Details Legacy name: 2921delG 
Contributors and Institutes
Stambergova A., Piskáčková T., Krenkova P., Macek Jr. M - Department of Biology and Medical Genetics, 2nd Faculty of Medicine and Faculty Hospital Motol, Prague, Czech Republic -
Submitted Phenotype Details This mutation was found in one Czech CF patient who was diagnosed at the age of 3 years. Sweat chloride concentration of 80,6 mmol/l. He is chronically infected with Pseudomonas aeruginosa and is pancreatic insufficient. He bears 3840delT on the second CF allele.  

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The Database was last updated at Apr 25, 2011