Mutation Details for c.3884_3885insT

cDNA Name c.3884_3885insT 
Protein Name p.Ser1297PhefsX5 
Exon or Intron exon 24 
Legacy Exon or Intron exon 21 
Legacy Name 4016insT 
Other Details This is the insertion of a single T in a poly-T repeat. This frameshift mutation would create a stop codon, four codons downstream of the repeat: Normal: 5'-ATT TTT TCT GGA ACA TTT AGA - 3' Mutant: 5'-ATT TTT TTC TGG AAC ATT TAG - 3' 
Contributors Cheadle J, Meredith L   1992-06-21
Institute University of Wales College of Medicine Health Park, Cardiff 
Phenotype Information CFTR2
Reference Cheadle et al. 1993a 

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The Database was last updated at Apr 25, 2011