Mutation Details for c.4426C>T

cDNA Name c.4426C>T 
Protein Name p.Gln1476X 
Exon or Intron exon 27 
Legacy Exon or Intron exon 24 
Legacy Name Q1476X 
Other Details This stop mutation was found by DGGE and identified by DNA sequencing in a CBAVD patient originating from Tunisia, who carries [delta]F508 on the other chromosome. This variation doesn't modifiy any restriction site. 
Contributors Claustres M, Des Georges M, Guittard C   1999-05-10
Institute Institut de Biologie Montpellier 
Submitted Phenotype Details The mutation was found in a 39 years old PS male patient with CBAVD, with no lung involvment, carrying deltaF508 on the other allele. (pers. corr. Claustres) 
Reference Claustres et al. 1999 

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The Database was last updated at Apr 25, 2011