Mutation Details for c.4111_4113dupGAA

cDNA Name c.4111_4113dupGAA 
Protein Name p.Glu1371dup 
Exon or Intron exon 25 
Other Details The patient is compound heterozygote, the second mutation is C to T at 3328 in exon 17b (p.R1066C); the mutation was detected after sequencing of the whole CFTR gene and was detected only once in our cohort of CF-patients 
Contributors and Institutes
Wagner Klaus - Medical University Graz, Institute of Human Genetics
  
Submitted Phenotype Details The female patient was born 1999, parents are from kazakhstan and were not available for analysis. Sweat test was positive. 
Reference  

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The Database was last updated at Apr 25, 2011