Mutation Details for c.1117-1g>A

cDNA Name c.1117-1g>A 
Exon or Intron intron 8 
Other Details The female patient was born 1986, parents are not available for analysis. Sweat test was positive several times, the patient is pancreas insufficient. 2005 lung transplantation has been performed. 
Contributors and Institutes
Wagner Klaus - Medical University Graz, Institute of Human Genetics
Submitted Phenotype Details The patient is compound heterozygote, the second mutation is F508del; the mutation was detected after sequencing of the whole CFTR gene and was detected only once in our cohort of CF-patients  

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The Database was last updated at Apr 25, 2011