Mutation Details for c.579+3A>G

cDNA Name c.579+3A>G 
Exon or Intron intron 5 
Legacy Exon or Intron intron 5 
Legacy Name 711+3A->G 
Other Details This mutation was identified by SSCP and direct sequencing. This was detected in two out of 23 unrelated CF families of Albanian origin, giving a frequency of 4.3% among Albanian population. BOth patients carry the [delta]F508 mutation on the other CF chromosome. 
Contributors Petreska L, Koceva S, Efremov GD   1993-11-05
Institute Macedonian Academy of Sciences and Arts Skopje, Republic of Macedonia 
Phenotype Information CFTR2
Reference Petreska et al. 1994 

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The Database was last updated at Apr 25, 2011