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 

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

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The Database was last updated at Apr 25, 2011