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genetics:variants:asp156dup [Retinoblastoma Wiki]
 

p.Asp156dup

Defining Data

  • c.465_467dup
  • g.42012_42014dup
  • observed 1 time



Classification of Pathogenicity



Additional Info

  • frameshift mutation, found in Germline Mutaion in unilateral RB (Nichols et al., Hum Mutat. 2005 Jun;25(6):566-74)
  • Prediction S. Mittnacht: “oncogenic with considerable penetrance/ expressivity if familial”
  • No information in paper if mutation is familiar
 
genetics/variants/asp156dup.txt · Last modified: 2011/05/12 21:21 by steffi
 
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