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genetics:variants:pro20leu [Retinoblastoma Wiki]
 

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p.Pro20Leu

Defining Data

  • c.59C>T
  • g.2118C>T
  • reported 3 times


Classification of Pathogenicity

  • in DNA from blood of unilateral rb and unaffected relatives
  • However Claude Houdayer reported (Email of 3.5.2010): Tunisian RBUS patient. No tumor available. The P20L was de novo as the unaffected parents were not carriers.



Additional Info

  • from email Rushlow, 3/11: Tumor has hetero c.2536insC, het promoter methylation & het Pro20Leu, Blood has only Pro20Leu (?regulatory mutation?)
 
genetics/variants/pro20leu.txt · Last modified: 2011/04/07 15:13 by steffi
 
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