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genetics:variants:leu569leu [Retinoblastoma Wiki]
 

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p.Leu569Leu

Defining Data

  • c.1707A>G
  • g.15009A>G
  • observed 2 times (?, E2741)



Classification of Pathogenicity

strong evidence against pathogenicity

  • in phase with g.174438C>T (3UTR), g174353dup (intron 25), 174438C>T (intron 26)


Additional Info

  • hemi/homozygous in DNA from tumor of a patient with isolated unilateral rb
  • DNA from this tumor also showed a somatic 5bp frameshift deletion in exon 8(ie not in DNA from blood)
  • not a pathogenic mutation
 
genetics/variants/leu569leu.txt · Last modified: 2013/09/06 08:23 by dietmar
 
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