Mutation Details for c.3197G>T

cDNA Name c.3197G>T 
Protein Name p.Arg1066Leu 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name R1066L 
Other Details This is the third mutation describe at this codon 1066 which contains a CpG dinucleotide and appears to be a hot spot for mutations. The mutation was found once among more than 250 CF chromosomes we have analyzed in exon 17b. 
Contributors Ferec C, Quere I, Guillermit H, Audrezet MP, Verlingue C, Mercier B   1992-04-10
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The French CF patient (male) has sweat chloride of 127 mmol/l and carries deltaF508 on the other allele. (pers.corr. Ferec) 
Reference Mercier et al. 1993b 

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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.

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The Database was last updated at Apr 25, 2011