Mutation Details for c.3212A>C

cDNA Name c.3212A>C 
Protein Name p.Gln1071Pro 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name Q1071P 
Other Details This substitution was detected by DGGE and identified by direct sequencing. The mutation was found in an adult French patient who bears [delta]F508 on the other chromosome. 
Contributors Ghanem N, Costes B, Martin J, Goossens M   1992-08-27
Institute Centre Hospitalier Universitaire Henri Mondor Paris, France 
Submitted Phenotype Details The Q1071P mutation was found in a patient also carrying deltaF508 on the other allele. (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