Mutation Details for c.1046C>T

cDNA Name c.1046C>T 
Protein Name p.Ala349Val 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name A349V 
Other Details A nucleotide, C->T at position 1178, was detected by DGGE and direct sequencign leading to A 349V in exon 7. 
Contributors Ferec C, Quere I, Verlingue C, Audrezet MP, Mercier B, Guillermit H   1992-06-22
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The mutation was identified in a CF carrier (Scotet et al. 2001, pers. corr. Ferec) 
Reference Audr├ęzet et al. 1993a 

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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