Mutation Details for c.3140G>A

cDNA Name c.3140G>A 
Protein Name p.Gly1047Asp 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name G1047D 
Other Details The above mutation was detected by direct sequencing in a CBAVD patient. It is not found in 58 normal chromosomes in fathers of CF patients nor in 150 random control CFTR alleles by dot blot analysis. 
Contributors Teng H, Messiaen L, Cuppens H, Cassiman J-J   1996-04-02
Institute Center for Human Genetics, Leuven, & Ctr Med Gen, Ghent, Belgium 
Submitted Phenotype Details The mutation was identified in a CBAVD patient. (pers. corr. De Boeck) 
Reference Teng et al. (NL#68) 

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The Database was last updated at Apr 25, 2011