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genetics:variants:pro23leu [Retinoblastoma Wiki]
 

p.Pro23Leu

Defining Data

  • c.68C>T
  • g.2127C>T
  • observed 1 time



Classification of Pathogenicity

weak evidence against pathogenicity

  • observed in unaffected individual (single observation): found in unaffected father


strong evidence against pathogenicity

  • present in tumor in addition to two deleterious mutations



Additional Info

  • Email Zerrin Onadim, 5/2011: “In tumour and blood DNA of unilateral patient and unaffected father, tumour has two other deleterious mutations not present in patient’s blood DNA”
 
genetics/variants/pro23leu.txt · Last modified: 2011/05/24 10:59 by steffi
 
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