Mutation Details for c.1993A>T

cDNA Name c.1993A>T 
Protein Name p.Thr665Ser 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name T665S 
Other Details A novel mutation was identified by DGGE and direct sequencing. This mutation was identified on a CF chromosome of Tunisian origin. The mutation was found once while screning 57 non[delta]F508 CF chromosomes. 
Contributors Ferec C, Mercier B, Verlingue C   1994-10-06
Institute Centre de Transfusion Sanguine et de Biogenetique 
Submitted Phenotype Details The mutation was identified in a Tunisian CF patient. (pers. corr. Ferec) 
Reference FĂ©rec et al. (NL#63) 

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The Database was last updated at Apr 25, 2011