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genetics:variants:gly310glu [Retinoblastoma Wiki]
 

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p.Gly310Glu

Defining Data

  • c.929G>A
  • g.61797G>A
  • observed 3 times



Classification of Pathogenicity

  • strong evidence against pathogenicity: identified (homozygous) in a tumor and blood DNA (heterozygous) of a patient with isolated unilateral retinoblastoma. The tumro also showed a somatic oncogenic mutation (p.Arg467X). In the family eight healthy relatives heterozygous for the c.929G>A were identified.



Additional Info

  • found in DNA from blood of unilateral rb



 
genetics/variants/gly310glu.txt · Last modified: 2011/06/01 12:53 by dietmar
 
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