Mutation Details for c.2940A>G

cDNA Name c.2940A>G 
Protein Name p.Ile980Met 
Exon or Intron exon 18 
Legacy Exon or Intron exon 16 
Legacy Name I980M 
Other Details The I980M mutation was detected in CFTR gene by DHPLC and identified by direct sequencing. No other mutation was found when the 27 exons of CFTR gene were studied by DHPLC or DGGE. 
Contributors Pasquet M.C., Baudis M., Deshayes M., Kitzis A.   2007-01-18
Institute Laboratoire de Génétique Cellulaire et Moléculaire, CHU de Poitiers, France 
Submitted Phenotype Details The patient, 32 years old, presents an oligospermy. 

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The Database was last updated at Apr 25, 2011