Mutation Details for c.3380G>A

cDNA Name c.3380G>A 
Protein Name p.Gly1127Glu 
Exon or Intron exon 21 
Legacy Exon or Intron exon 18 
Legacy Name G1127E 
Other Details This mutation has been found in one among 50 non-[delta]F508 CF chromosomes. 
Contributors Bienvenu T, Cazeneuve C, Tcherkoff L, Kaplan JC, Beldjord C   1994-06-22
Institute Hopitaux de Paris Paris, France 
Submitted Phenotype Details The female subject is PS and has no pulmonary symptoms. She is a carrier. (pers. corr. Bienvenu) 
Reference Bienvenu et al. (NL#63) 

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The Database was last updated at Apr 25, 2011