Mutation Details for c.1089_1091delinsAAT

Note: this mutation was submitted but not yet reviewed by our curator.
cDNA Name c.1089_1091delinsAAT 
Protein Name p.Asp363_Ser364delinsGluIle 
Exon or Intron exon 8 
Other Details  
Contributors and Institutes
Schwarz MJ - St Mary's Hospital Manchester
Brock JL - St Mary's Hospital Manchester
Bulman M - St Mary's Hospital Manchester
Adaway M - St Mary's Hospital Manchester
  
Submitted Phenotype Details Raised IRT on Newborn Screening; equivocal sweat test. No second mutation detected after sequencing entire gene (coding regions). MLPA failed. 
Reference  

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The Database was last updated at Apr 25, 2011