Mutation Details for c.2997_3000delAATT

cDNA Name c.2997_3000delAATT 
Protein Name p.Ile1000X 
Exon or Intron exon 19 
Legacy Exon or Intron exon 17a 
Legacy Name 3129del4 
Other Details We believe that this mutation is a de novo mutation from the patients maternal chromosome. We have checked several CA repeats, and found completely agreement of any alleles in this family. 
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