Mutation Details for c.377G>A

cDNA Name c.377G>A 
Protein Name p.Gly126Asp 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name G126D 
Other Details  
Contributors Wagner et al.   1994-01-01
Submitted Phenotype Details The mutation was identified in a CF patient (male) diagnosed at 6 months; he is PI and carries deltaF508 on the other allele. (pers.corr. Wagner) 
Reference Wagner et al. 1994 

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Literature referencing this mutation. Sort by: 
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

  • Dresser ME, Ewing DJ, Conrad MN, Dominguez AM, Barstead R, Jiang H, Kodadek T   DMC1 functions in a Saccharomyces cerevisiae meiotic pathway that is largely independent of the RAD51 pathway.   1997 010;147(2):533-44
  • Wagner K, Greil I, Schneditz P, Rosenkranz W   A new missense mutation G126D in exon 4 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.   1994 001-002;44(1):56-7

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The Database was last updated at Apr 25, 2011