Mutation Details for c.420_421insA

cDNA Name c.420_421insA 
Protein Name p.Ala141SerfsX18 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name 552insA 
Other Details A new framshift mutation was found in exon 4 of the CFTR gene. The change is an insertion of adenine at position 552. The insertion introduces a termination codon (TAG) at amino acid position 158. The mutation has been detected by SSCp analysis, followed by direct sequencing of amplification product. This CF patient was a 1 year old child with severe pulmonary involvement. his genotype was found, thus determined as [delta]F508/552insA. 
Contributors Ivaschenko TE, Bakay M, Baranov VS   1993-12-07
Institute null 
Submitted Phenotype Details  
Reference Ivaschenko et al. (NL#60) 

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The Database was last updated at Apr 25, 2011