Mutation Details for c.3930G>A

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

cDNA Name c.3930G>A 
Protein Name p.Trp1310X 
Exon or Intron  
Other Details  
Contributors and Institutes
Mgr. Malgorzata Libik, PhD-Faculty Hospital Motol, Dr. Satenik Harutyunyan -Yerevan State Medical University CF Centre , Prof. Milan Macek -Faculty Hospital Motol -
Submitted Phenotype Details Armenian patient born 2005, typical clinical picture, chronic Pseudomonas aeruginosa, sever lung disease, two positive sweat tests 

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The Database was last updated at Apr 25, 2011