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genetics:variants:arg46thr_splice [Retinoblastoma Wiki]
 

p.Arg46Thr/splice

Defining Data

  • c.137G>C
  • g.2196G>C
  • observed 3 times


Classification of Pathogenicity

weak evidence against pathogenicity

  • shows cosegregation with rb (Ref?)



Additional Info
Blood has het c.137G>C; Last base of exon; Reduces donor splice score 91 to 77 (Patient 669# from email Rushlow, 30.3.11, bilateral RB)

 
genetics/variants/arg46thr_splice.txt · Last modified: 2011/04/07 15:19 by steffi
 
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