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genetics:variants:met1val [Retinoblastoma Wiki]
 

p.Met1Val

Defining Data

  • c.1A>G
  • g.2060A>G
  • observed 2 times


Classification of Pathogenicity



Additional Info

  • Patient #11 from Arupa Ganguly (email 3/11), found in patient with caucasian background
  • Patient #1576 from email Rushlow, 30.3.11, unilateral RB: No tumor. Destroys translation initiation codon. Unilaterally affected father (proband) and very young son (unknown phenotype) carry the mutation in blood
 
genetics/variants/met1val.txt · Last modified: 2011/04/07 15:03 by steffi
 
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