Mutation Details for c.165-12_165-11insA

cDNA Name c.165-12_165-11insA 
Exon or Intron intron 2 
Legacy Exon or Intron intron 2 
Legacy Name 297-12insA 
Other Details This mutation, located in the polypyrimidine tract of the acceptor splice site of intron 3, could affect the normal splicing of intron 3. It was found in the father of a fetus who presented with a hyperechogenic bowel. The fetus did not inherit this mutation. 297-12insA creates a MseI restriction site. 
Contributors Girodon E, Cazeneuve C, Sternberg D, Costes B, Goossens M   1999-11-23
Institute Service de Biochimie-Genetique Hopital Henri-Mondor, France 
Submitted Phenotype Details No additional clinical data available. (pers. corr. Girodon) 
Reference Girodon et al. 1999 

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The Database was last updated at Apr 25, 2011