Mutation Details for c.1052C>T

cDNA Name c.1052C>T 
Protein Name p.Thr351Ile 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name T351I 
Other Details This mutation was identified in Polish infant during CF screening program. No other mutation was found after sequencing exons: 7,10,11,13,21. Mutations 3849+10kbC>T, dele2,3(21kb) and R117H were also excluded. 
Contributors Norek A., Sobczynnska-Tomaszewska A., Wertheim K., Czerska K, Oltarzewski M., Sabds D., Bal J.   2008-09-16
Institute Institute of Mother and Child, Department of Medical Genetics, Warsaw, Poland 
Submitted Phenotype Details IRT = 242.43[ug/l] 

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The Database was last updated at Apr 25, 2011