Mutation Details for c.971C>T

cDNA Name c.971C>T 
Protein Name p.Pro324Leu 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name P324L 
Other Details This mutation was identified in Polish infant during CF newborn screening program. The deltaF508 mutation in both CFTR alleles was also found. No other mutation was found after sequencing of 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 Typical CF phenotype, Meconium ileus, IRT = 189.73[ug/l] 

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The Database was last updated at Apr 25, 2011