Mutation Details for c.574_576delGAT

cDNA Name c.574_576delGAT 
Protein Name p.Asp192del 
Exon or Intron exon 5 
Legacy Exon or Intron exon 5 
Legacy Name [delta]D192 
Other Details The mutation was detected by DGGE and identified by direct sequencing in 2 siblings with CF. Their other CF allele is 711+1G->T. They are both pancreatic insufficient with sweat chloride of 121 and 95 mEq/L, respectively. 
Contributors Feldmann D, Magnier C, Chauve C, Laroze F, Aymard P, Grimfeld A   1995-06-13
Institute Hopital D'Enfants Armand-Trousseau 
Submitted Phenotype Details  
Reference Feldmann et al. (NL#66) 

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The Database was last updated at Apr 25, 2011