Mutation Details for c.941G>A

cDNA Name c.941G>A 
Protein Name p.Gly314Glu 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name G314E 
Other Details This mutation, in exon 7 of the CFTR gene, was found by direct sequencing and the second mutation is [delta]F508. The patient is 7 years old. Diagnosis of CF was established at the age of five after severe lung infection. Sweat gland tests were positive. She is receiveing pancreatic enzyme supplements and long-term antibiotic treatment. 
Contributors Meitinger T, Aulehla-Scholz C, Bohm I, Deufel T   1992-01-23
Institute Ludwig-Maximillians Universitat Munchen 
Submitted Phenotype Details The 7 years old female patient is PS, has positive sweat chloride, pneumonia and recurrent bronchitis. (Golla et al. 1994) 
Reference Golla 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.

  • Golla A, Deufel A, Aulehla-Scholz C, Bohm I, Hilz B, Meitinger T, Deufel T   Identification of a novel missense mutation (G314E) in exon 7 of the cystic fibrosis transmembrane conductance regulator gene identified in a CF patient with pancreatic sufficiency.   1994;3(1):67-8

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The Database was last updated at Apr 25, 2011