Mutation Details for c.4272C>A

cDNA Name c.4272C>A 
Protein Name p.Tyr1424X 
Exon or Intron exon 27 
Other Details he patient is compound heterozygote, the second mutation is C to T at 146 (p.P5L); 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 2004, parents are from Serbia and were not available for analysis. Sweat test was repeatedly positive, PS 

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The Database was last updated at Apr 25, 2011