Mutation Details for c.1388G>T

cDNA Name c.1388G>T 
Protein Name p.Gly463Val 
Exon or Intron exon 10 
Other Details Two siblings with classic CF. Have GI and respiratory symptoms. Both with positive sweat test.Second mutation is G551D 
Contributors and Institutes
Faverio, Luis A. - Florida Pediatric Pulmonology – CF Center The Children’s Hospital of SWFL. Fort Myers, Florida
Submitted Phenotype Details Female sibling is 2y 10/12 months diagnosed after developing FTT. Refer to us for admission after a positive sweat test at age of 7 monthsMale sibling found by NBS. G463V mutation documented by direct sequencing of exon 9 

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The Database was last updated at Apr 25, 2011