Mutation Details for c.2812dupG

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

cDNA Name c.2812dupG 
Protein Name p.Val938GlyfsX37 
Exon or Intron  
Other Details The c.2812dupG 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
Cabello PH - Human Genetics Laboratory/ Oswaldo Cruz Institute/FIOCRUZ
Campos M Jr - Human Genetics Laboratory/ Oswaldo Cruz Institute/FIOCRUZ
Zembrzuski VM - Human Genetics Laboratory/ Oswaldo Cruz Institute/FIOCRUZ
  
Submitted Phenotype Details The mutation was identified in a Brazilian CF patient (male, 25y) diagnosed at 1 month of age, being PI, with positive sweat tests and pulmonary disease: recurrent pneumonia, Sa, Pa and BCC colonization. He carries [delta]F508 on the other allele. 
Reference  

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The Database was last updated at Apr 25, 2011