Mutation Details for c.4190T>A

cDNA Name c.4190T>A 
Protein Name p.Val1397Glu 
Exon or Intron exon 26 
Legacy Exon or Intron exon 23 
Legacy Name V1397E 
Other Details This mutation was identified by SSCP and direct sequencing. This was identified in a father of a deceased CF patient of Macedonian origin. This mutation was found once aomng 79 non-[delta]F508 CF chromosomes of Macedonian population. 
Contributors Petrenka L, Koceva S, Efremov G   1993-11-05
Institute Macedonian Academy of Sciences and Arts Skopje, Republic of Macedonia 
Submitted Phenotype Details  
Reference Petreska 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.

  • Petreska L, Koceva S, Gordova-Muratovska A, Nestorov R, Efremov GD   Identification of two new mutations (711 +3A-->G and V1397E) in CF chromosomes of Albanian and Macedonian origin.   1994 006;3(6):999-1000

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The Database was last updated at Apr 25, 2011