Mutation Details for c.174_177delTAGA

cDNA Name c.174_177delTAGA 
Protein Name p.Asp58GlufsX32 
Exon or Intron exon 3 
Legacy Exon or Intron exon 3 
Legacy Name 306delTAGA 
Other Details This mutation was detected by DGGE and identified by direct DNA sequencing in a Caucasian patient by Ferec C, Quere I, Verlingue C, Raguenes O, Audrezet M-P, and Mercier B. It was also reported in a Bulgarian patient by Savov A, Angelicheva D, Jordanova A, Kremensky A, Kalaydjieva L (Feb 1, 1995); please contact Kremensky. 
Contributors Ferec C, et al. Savov A, et al.   1994-12-19
Institute Centre de Tranfusion Sanguine et de Biogenetique, Brest, France Bulgarian Institute, Sofia, Bulgaria 
Submitted Phenotype Details The French CF patient (female, 10y) was diagnosed at birth, presenting with meconium ileus. She is PI, has moderate lung disease and positive sweat chloride. She carries R553X on the other allele.(Clavel et all, 1997 and pers.corr. Ferec) 
Reference FĂ©rec et al.; Savov et al. (NL#65) 

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The Database was last updated at Apr 25, 2011