Mutation Details for c.280_286delACCAAAG

cDNA Name c.280_286delACCAAAG 
Protein Name p.Thr94GlnfsX11 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name 412del7->TA 
Other Details Mutation 412del7->TA is a complex mutation due to deletion in exon 4 of ACCAAAG from 412 and insertion of TA. It is responsible for a frameshift and creation of a stop codon downstream. 
Contributors Michel-Calemard L, Bey Omar F, Morel Y   1996-07-10
Institute Service de Biochimie Endocrinienne et Mol├ęculaire, Hopital Debrousse 
Submitted Phenotype Details  
Reference Michel-Calemard et al. (NL#69) 

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The Database was last updated at Apr 25, 2011