Mutation Details for c.2143C>T

cDNA Name c.2143C>T 
Protein Name p.Gln715X 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name Q715X 
Other Details This mutation was detected by DGGE analysis and characterized by direct sequencing. 
Contributors Polizzi A., Santostasi T., Diana A., Logrillo VP. Manca A., and Armenio L.   2008-06-04
Institute Dipartimento di Biomedicina dell’Età Evolutiva-Laboratorio Fibrosi Cistica-Azienda Policlinico-Università degli Studi di Bari- Bari-ITALY  
Submitted Phenotype Details The mutation was found in a CF Southern Italian patient (female) diagnosed at 10 months; positive sweat chloride (Cl-=112). She presents a classical form of disease with pancreatic insufficiency. She has the G1349D mutation on the other CF cromosome. 

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The Database was last updated at Apr 25, 2011