Mutation Details for c.2936A>T

cDNA Name c.2936A>T 
Protein Name p.Asp979Val 
Exon or Intron exon 18 
Legacy Exon or Intron exon 16 
Legacy Name D979V 
Other Details The above mutation was detected by DGGE and direct sequencing, and was observed in a French family with 2 CF patients carrying [delta]F508 on their other CF chromosomes.  
Contributors Feldmann D, Cougoureux, Magnier C, Larose F, Aymard P   1996-05-03
Institute Laboratoire de Biochimie, Hopital Trousseau, Paris, France 
Submitted Phenotype Details One patient (male, 11y) diagnosed at 4 y,sweat chloride 88-97, carrying delF508 on the other allele. (pers.corr. Feldmann) 
Reference Feldmann et al. (NL#68)  

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The Database was last updated at Apr 25, 2011