Changes

375 bytes added ,  18:25, 15 August 2018
Line 71: Line 71:  
==Common Alteration Types==
 
==Common Alteration Types==
   −
Put your text here and/or fill in the table with an X where applicable
+
The majority of ASXL1 mutations are nonsense or frameshift variants causing truncation of downstream of the ASXH domain with consequent loss of the PHD domain [1]. Some of the common variants reported in the Catalogue of Somatic Mutations in Cancer database (COSMIC) (accessed 6th August 2018) are c.2444T>C (NM_015338.5) (p.L815P) (n=97) (all AML), c.2077C>T (NM_015338.5) (p.R693*) (majority hematological malignancies), c.1934_1935insG (NM_015338.5) (p.G646Wfs*12) (majority hematological malignancies).
    
{| class="wikitable sortable"
 
{| class="wikitable sortable"
Line 77: Line 77:  
! Copy Number Loss  !! Copy Number Gain  !!  LOH  !!  Loss-of-Function Mutation  !!  Gain-of-Function Mutation  !!  Translocation/Fusion  
 
! Copy Number Loss  !! Copy Number Gain  !!  LOH  !!  Loss-of-Function Mutation  !!  Gain-of-Function Mutation  !!  Translocation/Fusion  
 
|-
 
|-
| EXAMPLE: X ||EXAMPLE: X || EXAMPLE: X || EXAMPLE: X || EXAMPLE: X || EXAMPLE: X
+
| ||  ||  || || ||  
 
|}
 
|}
  
49

edits