Mutation Details for c.2908G>A

cDNA Name c.2908G>A 
Protein Name p.Gly970Ser 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name G970S 
Other Details This mutation was detected by DHPLC analysis followed by direct sequencing. This mutation was found in one CF patient of Egyptian origin who carried the F508 del on the second CF allele 
Contributors Seia M, Porcaro L., Colombo C., Russo M.C.   2006-09-21
Institute Fondazione Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena 
Submitted Phenotype Details The individual (male, 1 year) was diagnosed as CF in the first month of life due to positive neonatal screening. His sweat test were 103.48 and 99.01 mEq/l. No respiratory symptoms, pancreatic insufficiency and normal growth at 11 months. 

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The Database was last updated at Apr 25, 2011