Mutation Details for c.3199_3200delinsA

cDNA Name c.3199_3200delinsA 
Protein Name p.Ala1067ThrfsX16 
Exon or Intron exon 20 
Other Details  
Contributors and Institutes
Bulman M - Regional Molecular Genetics Laboratory St Mary’s Hospital, Manchester, England
Brownsell E - Regional Molecular Genetics Laboratory St Mary’s Hospital, Manchester, England
Schwarz MJ - Regional Molecular Genetics Laboratory St Mary’s Hospital, Manchester, England
  
Submitted Phenotype Details 9 month old boy with two sweat test results showing grossly abnormal sweat conductivity. Clinically he fits the diagnosis of CF. 3659delC [HGVS c.3527del] was detected on the other chromosome. This child was also shown to be heterozygous for the S1235R sequence variant. 
Reference  

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The Database was last updated at Apr 25, 2011