Mutation Details for c.442A>T

cDNA Name c.442A>T 
Protein Name p.Ile148Phe 
Exon or Intron exon 4 
Other 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 
Contributors and Institutes
I148F - Medical University Graz, Institute of Human Genetics
Submitted Phenotype Details The female patient was born 1961, parents are not available for analysis. Since childhood recurrent bronchopulmonary infections; with the age of 9 and 22 years tuberculosis required hospital stay for several months; recurrent pulmonary problems; in the last years she has been treated for chronic obstructive pulmonary disease (COPD) and she received several times a year antibiotic therapy with varying success. Sweat test was positive, PS 

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The Database was last updated at Apr 25, 2011