Mutation Details for c.543_546delTAGT

cDNA Name c.543_546delTAGT 
Protein Name p.Leu183PhefsX5 
Exon or Intron exon 5 
Legacy Exon or Intron exon 5 
Legacy Name 675del4 
Other Details The mutation was identified in a French CF patient with [delta]F508 on the other chromosome. 
Contributors Bozon D   1998-03-19
Institute Hopital Debrousse, Lyon, France 
Submitted Phenotype Details The patient carrying deltaF508 on the other allele has died. No clinical information is available. (pers. corr. Bozon) 
Reference Bozon (NL#70) 

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The Database was last updated at Apr 25, 2011