Mutation Details for c.3386T>G

cDNA Name c.3386T>G 
Protein Name p.Val1129Gly 
Exon or Intron exon 21 
Legacy Exon or Intron exon 18 
Legacy Name V1129G 
Other Details Name in accordance with the standard nomenclature guidelines (HGVS): c.3386T>G or p.Val1129Gly 
Contributors Claustres M, Guittard C, Altieri JP, Templin C, des Georges M.    2008-01-28
Institute Laboratoire de Genetique Moleculaire. IURC. CHU de Montpellier. France 
Submitted Phenotype Details This mutation was identified by sequencing in a child suspected of CF(diarrhea, bronchitis and positive or borderline sweat test). No other mutation has been found after complete scanning(Sequencing and search for large rearrangements) 

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The Database was last updated at Apr 25, 2011