Mutation Details for c.1679+16T>C

cDNA Name c.1679+16T>C 
Exon or Intron intron 12 
Legacy Exon or Intron intron 11 
Legacy Name 1811+16T->C 
Other Details The mutation was found in one CFTR gene, by exon 11 DGGE and sequencing. This mutation was detected in a African-Portuguese CF patient, that is a compound heterozygous with the mutation 3601-17T->C.  
Contributors Pacheco P, Loureiro P, Lopes B.   2006-05-12
Institute Instituto Nacional de Saúde, Centro de Genética Humana, Lisboa, Portugal 
Submitted Phenotype Details This African-Portuguese female patient was diagnosed with mild CF at 9 years of age having: nasal polyps, sinusitis, frequent cough with sputum, 2 border-line sweat tests (55- 60 mEq/l) and abdominal pain. The geographic origin of the patient is Guiné Bissau and Cabo-Verde.  

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The Database was last updated at Apr 25, 2011