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 

To check if there are any papers published about this mutation/variant on PubMed, please click here.
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




Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011