Mutation Details for c.3194T>C

cDNA Name c.3194T>C 
Protein Name p.Leu1065Pro 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name L1065P 
Other Details This mutation was detected in a single French family. The patient is PS and has a mild pulmonary disease. She carries the [delta]F508 deletion on the second allele. The mutation creates a MnII restriction site. 
Contributors Ghanem N, Costes B, Fanen P, Goossens M   1992-01-20
Institute Unite de Recherches en Genetique Moleculaire et en Hematologie Creteil, France 
Phenotype Information CFTR2
Reference Ghanem et al. 1994 

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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