Mutation Details for c.3376_3381delGAAGGA

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

cDNA Name c.3376_3381delGAAGGA 
Protein Name p.Glu1126_Gly1127del 
Exon or Intron  
Other Details  
Contributors and Institutes
Patient - self reporting
Submitted Phenotype Details No abnormal phenotype seen. Female aged 33 years, tested as part of prenatal carrier screening check. No respiratory or digestive issues. South Asian (Indian). Normal glucose tolerance and in good general health.  

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The Database was last updated at Apr 25, 2011