Mutation Details for c.3935A>G

cDNA Name c.3935A>G 
Protein Name p.Asp1312Gly 
Exon or Intron exon 24 
Legacy Exon or Intron exon 21 
Legacy Name D1312G 
Other Details This mutation was identified on one libanon CF chromosome 
Contributors CABET/BEY - OMAR F., PLOYE F., MOREL Y.   2008-04-03
Institute Lab. d'Endocrinologie Moleculaire et Maladies Rares. Groupement Hospitalier Est. Bron 
Submitted Phenotype Details D1312G was found in a boy (14 yrs old) with chronic sinusitis, bronchitis with pseudomonas, short stature, low weight and negative sweat chloride test. The mutation on the other chromosome is unknown. 

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The Database was last updated at Apr 25, 2011