Mutation Details for c.488delA

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

cDNA Name c.488delA 
Protein Name p.Lys163ArgfsX3 
Exon or Intron  
Other Details The c.487delA mutation was detected by NGS (Next Sequencing Generation) and validated by Sanger sequencing in a Brazilian CF patient with PI, carrying [delta]F508 on the other chromosome. 
Contributors and Institutes
Cambraia A - Human Genetics Laboratory/Oswaldo Cruz Institute/FIOCRUZ
Cabello, GMK - Human Genetics Laboratory/Oswaldo Cruz Institute/FIOCRUZ
  
Submitted Phenotype Details The mutation was identified in a Brazilian CF patient (female, 7y) diagnosed at 5 months of age, being PI and having positive sweat tests. She carries deltaF508 on the other allele. 
Reference  

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The Database was last updated at Apr 25, 2011