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. 

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The Database was last updated at Apr 25, 2011