Mutation Details for c.941G>T

cDNA Name c.941G>T 
Protein Name p.Gly314Val 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name G314V 
Other Details This mutation was found in a CF patient homozygous for this mutation. He was diagnosed as CF at 32 years. 
Contributors Chevalier-Porst F, Bozon D   1997-10-28
Institute Biochimie, Bat D, Hopital Debrousse, Lyon, France 
Submitted Phenotype Details (pers. corr. Bozon) One homozygous patient, diagnosed at 32 yrs, no meconium ileus, sweat chloride 74 mEq/l. 
Reference Chevalier-Porst & Bozon (NL#70) 

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The Database was last updated at Apr 25, 2011