Mutation Details for c.3161delA

cDNA Name c.3161delA 
Protein Name p.His1054LeufsX6 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name 3293delA 
Other Details This mutation was detected by DGGE and direct sequencing and was found in a 15-year old French patient who bears [delta]F508 on the other chromosome. 
Contributors Ghanem N, Costes B, Martin J, Goossens M   1992-08-24
Institute Centre Hospitalier Universitaire Henri Mondor Paris, France 
Submitted Phenotype Details The female patient (26y) was diagnosed in childhood; she is PI, with positive sweat chloride, also carries deltaF508. (pers. corr. Girodon)  
Reference Ghanem et al. 1994 

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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.

  • Ghanem N, Costes B, Girodon E, Martin J, Fanen P, Goossens M   Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.   1994 005 15;21(2):434-6

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The Database was last updated at Apr 25, 2011