Mutation Details for c.503C>T

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.503C>T 
Protein Name p.Ser168Leu 
Exon or Intron  
Other Details The above mutation was detected by MLPA analysis and identified by direct DNA sequencing. It creates a Msel restriction site in the DNA sequence 
Contributors and Institutes
Giselda M.K. Cabello - Human Genetics Laboratory, Oswaldo Cruz Institute, FIOCRUZ - Brazil
Pedro H. Cabello - Human Genetics Laboratory, Oswaldo Cruz Institute, FIOCRUZ - Brazil
Raisa S. Martins - Human Genetics Laboratory, Oswaldo Cruz Institute, FIOCRUZ - Brazil
Ana Carolina P da Fonseca - Human Genetics Laboratory, Oswaldo Cruz Institute, FIOCRUZ - Brazil
  
Submitted Phenotype Details The patient (female, 20y) is a PI Brazilian, African descendant CF patient, and the second chromosome carriers an unknown allele. 
Reference  

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The Database was last updated at Apr 25, 2011