Mutation Details for c.1162_1163delACinsTA

cDNA Name c.1162_1163delACinsTA 
Protein Name p.Thr388X 
Exon or Intron exon 9 
Legacy Exon or Intron exon 8 
Legacy Name T388X 
Other Details A AC-TA at 1294 has changed the codon for Thr to a stop codon (T388X) in exon 8 
Contributors Schwartz M, Larsen P, Palle AL, Vedel G   1993-11-05
Institute Section of Clinical Genetics Copenhagen, Denmark 
Submitted Phenotype Details  
Reference Schwartz et al. (NL#59) 

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The Database was last updated at Apr 25, 2011