Mutation Details for c.3322G>C

cDNA Name c.3322G>C 
Protein Name p.Val1108Leu 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name V1108L 
Other Details The new missense mutation in the exon 17b was detected by DGGE and identified by direct sequencing. The mutation was found in an isolated CBAVD patient with no other CF/ CFTR mutation identified after complete gene screening. The mutation was not detected in 200 CFTR alleles from 100 healthy fertile males and 90 chromosomes from 45 CBAVD patients.  
Contributors Grangeia A., Carvalho F., Fernandes S., Sousa M., Barros A.   2006-04-07
Institute Department of Genetics, Faculty of Medicine of Porto, Portugal 
Submitted Phenotype Details The patient was diagnosed with CBAVD, is PS, no pulmonary disease and negative sweat-chloride test (pers. corr. Grangeia).  

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The Database was last updated at Apr 25, 2011