Mutation Details for c.2989-1G>A

cDNA Name c.2989-1G>A 
Exon or Intron intron 18 
Legacy Exon or Intron intron 16 
Legacy Name 3121-1G->A 
Other Details The above mutation was detected by DGGE and direct sequencing. It was found in a Jewish family in France. The patient is pancreatic inssufficient, with the other CF allele being W1282X. Contact: Delphine Feldmann. 3121-1G->A was also found in a fetus at 14 weeks of gestation by Dr. Claude FĂ©rec (Oct 10); the fetus was said to be affected with the other mutation being [delta]F508. 
Contributors Feldmann D, Fontaine J-L, Magnier C, Chauve C, Plouvier E, Aymard P   1995-09-22
Institute Hopital D'Enfants Armand-Trousseau 
Phenotype Information CFTR2
Reference Feldmann et al (NL#67) 

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The Database was last updated at Apr 25, 2011