Mutation Details for c.3434G>A

cDNA Name c.3434G>A 
Protein Name p.Trp1145X 
Exon or Intron exon 21 
Other Details The mutation was detected by dHPLC analysis and characterised by direct sequencing. 
Contributors and Institutes
Picci L. - Centro Malattie Rare, Dipartimento Pediatria, Padova, Italy
Cameran M. - Centro Malattie Rare, Dipartimento Pediatria, Padova, Italy
Marangon O. - Centro Malattie Rare, Dipartimento Pediatria, Padova, Italy
Marzenta D. - Centro Malattie Rare, Dipartimento Pediatria, Padova, Italy
Mattina T. - Genetica Medica, Policlinico Catania, Italy
  
Submitted Phenotype Details This mutation has been identified in a CF South Italian patient (F, 32y): she had positive sweat test, no other clinical data available.She carries 3659delC on the other allele.Her CF brother (25y) has same mutations. 
Reference  

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The Database was last updated at Apr 25, 2011