Mutation Details for c.845_846insA

cDNA Name c.845_846insA 
Protein Name p.Met284AsnfsX3 
Exon or Intron exon 7 
Legacy Exon or Intron exon 6b 
Legacy Name 977insA 
Other Details This is the insertion of a single A in a poly A repeat (977-982 InsA). This frameshift introduces a stop codon, two codons downstream of the repeat. We have identified only one CF chromosomes carrying this mutation out of our total 369 CF chromosomes. 
Contributors Cheadle J, Meredith L   1992-06-18
Institute University of Wales College of Medicine Health Park, Cardiff 
Submitted Phenotype Details  
Reference Cheadle et al. 1993a 

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The Database was last updated at Apr 25, 2011