Mutation Details for c.4231C>T

cDNA Name c.4231C>T 
Protein Name p.Gln1411X 
Exon or Intron exon 26 
Legacy Exon or Intron exon 23 
Legacy Name Q1411X 
Other Details A nonsense mutation, Q1411X, resulting from a C to T transition at nucleotide 4363 in exon 23 was detected in a CF carrier. It was not found among 121 CF chromosomes screened nor 42 non-CF chromosomes. The substitution does not modify any restriction site in the DNA sequence. 
Contributors Costes B, Goossens M, Ghanem N   1993-08-18
Institute Unite de Recherches en Genetique Moleculaire et en Hematologie Creteil, France 
Submitted Phenotype Details Q1411X was found in a 40y old male diagnosed with CBAVD at 30t, is PS and has borderline sweat chloride. The other mutations are R668C-G576A-D443Y. (pers. corr. Girodon) 
Reference Costes et al. (NL#58) 

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The Database was last updated at Apr 25, 2011