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genetics:variants:glu137asp [Retinoblastoma Wiki]
 

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p.Glu137Asp

Defining Data

  • c.411A>T
  • g.41956A>T
  • observed 6 times


Classification of Pathogenicity

weak evidence against pathogenicity

  • observed in a „normal control individual from India (in 1/110 alleles from the Indian Subcontinent (Sivakumaran TA, Shen P, Wall DP, Do BH, Kucheria K, Oefner PJ. Conservation of the RB1 gene in human and primates. Hum Mutat. 2005;25))rs3092902.
 
genetics/variants/glu137asp.txt · Last modified: 2011/03/27 09:17 by steffi
 
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