Mutation Details for c.575A>G

cDNA Name c.575A>G 
Protein Name p.Asp192Gly 
Exon or Intron exon 5 
Legacy Exon or Intron exon 5 
Legacy Name D192G 
Other Details This mutation was identified by DGGE and direct sequencing. The nucleotide change A->G at position 707 in exon 5 leads to D192G. This mutation was identified on one chromosome of a Yugoslavian patient in collaboration with Dr. Canki Klain. 
Contributors Ferec C, Quere I, Audrezet MP, Verlingue C, Guillermit H, Mercier B, Raguenes O   1993-01-19
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The mutation was identified in a slovenian CF patient. (pers. corr. Ferec) 
Reference Audr├ęzet 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.





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