Mutation Details for c.3890_3891insT

cDNA Name c.3890_3891insT 
Protein Name p.Gly1298TrpfsX4 
Exon or Intron exon 24 
Legacy Exon or Intron exon 21 
Legacy Name 4022insT 
Other Details The change is an insertion of a timine at position 4022 in exon 21. The insertion introduces a termination codon (TAG) at amino acid position 1301. The mutation was detected by DHPLC and both strands have been sequenced. 
Contributors Neri T.M, Sebastio P, Grzincihch G.   2004-10-12
Institute Laboratorio di Genetica Molecolare e Biotecnologie Diagnostiche, Parma Italy. 
Submitted Phenotype Details 4022insT was found in 29 y female patient carrying W1282G on the other allele. She had pulmonary and intestinal disease with sweat chloride of 142-152 mEq of Na. This mutation was identified on two Italian chromosomes. 

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The Database was last updated at Apr 25, 2011