Mutation Details for c.2737_2738insG

cDNA Name c.2737_2738insG 
Protein Name p.Tyr913X 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name 2869insG 
Other Details This mutation was found in two chromosomes out of sixteen analyzed by direct sequencing. 
Contributors Gasparini P, Bonizzato A, Dognini M, Savoia A, Pignatti P   1991-04-05
Institute Istituto di Scienze Biologiche Verona, Italy 
Submitted Phenotype Details  
Reference Gasparini et al. 1992; Nunes et al. 1992 

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Literature referencing this mutation. Sort by: 
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

  • Casals T, Gimenez J, Ramos MD, Nunes V, Estivill X   Prenatal diagnosis of cystic fibrosis in a highly heterogeneous population.   1996 003;16(3):215-22
  • Gasparini P, Bonizzato A, Dognini M, Pignatti PF   Restriction site generating-polymerase chain reaction (RG-PCR) for the probeless detection of hidden genetic variation: application to the study of some common cystic fibrosis mutations.   1992 002;6(1):1-7
  • Nunes V, Bonizzato A, Gaona A, Dognini M, Chillon M, Casals T, Pignatti PF, Novelli G, Estivill X, Gasparini P   A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene: identification, regional distribution, and clinical presentation.   1992 005;50(5):1140-2

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The Database was last updated at Apr 25, 2011