Mutation Details for c.1642_1643delCT

cDNA Name c.1642_1643delCT 
Protein Name p.Leu548GlufsX19 
Exon or Intron exon 12 
Legacy Exon or Intron exon 11 
Legacy Name 1774delCT 
Other Details A new mutation was found in exon 11 of the CFTR gene. The frameshift mutation is a deletion of CT at nucleotide position 1774. The mutation abolishes the same Ddel site as S549R, S549N or S549I. It has been identified by direct sequencing. The deletion was found in one French CF chromosome associated with the B haplotype. The boy who is 9 years old has inherited the deltion from his mother and carries a yet undefined mutation on the other chromosome.  
Contributors Michel-Calemard L, Omar FB, Morel Y   1994-01-13
Institute Mospices Civils de Lyon Hopital Debrousse  
Submitted Phenotype Details  
Reference Michel-Calemard et al. (NL#61) 

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The Database was last updated at Apr 25, 2011