Mutation Details for c.2168G>T

cDNA Name c.2168G>T 
Protein Name p.Gly723Val 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name G723V 
Other Details  
Contributors Ferec C.   2002-01-01
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The mutation was identified in a patient with disseminated bronchiectasis. (pers. corr. Ferec) 
Reference  

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The Database was last updated at Apr 25, 2011