Mutation Details for c.2989-3C>G

cDNA Name c.2989-3C>G 
Exon or Intron intron 18 
Legacy Exon or Intron intron 16 
Legacy Name 3121-3C->G 
Other Details This mutation was detected by DGGE and identified by direct sequencing. 
Contributors Dr Thierry Bienvenu1, François Cartault2, Michel Renouil3   2003-05-03
Institute 1 Laboratoire de Biochimie et Génétique Moléculaire, Hôpital Cochin, 123 bld de Port Royal, 75014 Paris, France; 2 Service de Génétique, CHD Felix Guyon, St Denis, La Réunion, France; 3 Service de Pédiatrie, CHS Reunion, St Pierre, La Réunion, France. 
Submitted Phenotype Details This mutation was identified in a male subject with "classical" cystic fibrosis. His other mutation is F508del. He is from Reunion Island. CF was suspected in the neonate by elevated serum trypsinogen (145ng/ml) and confirmed by pathological sweat test values (108-112 mM). Exocrine pancreatic insufficiency was ascertained by increased fat content in stool samples (17.6g/24h). No respiratory disease was observed at the age of 6 months. 

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The Database was last updated at Apr 25, 2011