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Table 1 Mutations identified in 57 consecutive medulloblastoma cases

From: Mutation and expression analysis in medulloblastoma yields prognostic variants and a putative mechanism of disease for i17q tumors

Sample Location Gene Exonic function Damaging Chr Start Ref Obs
32 Exonic; splicing GPS2 Splice site -- chr17 7217225 C T
41 Exonic; splicing KDM6A Frameshift insertion -- chrX 44969494 - GG
17 Exonic MLL3 Nonsynonymous 4/4 chr7 151859899 G A
16 Exonic MLL3 Nonsynonymous 2/4 chr7 151860230 G C
16 Exonic MLL3 Nonsynonymous 1/4 chr7 151877127 G T
21 Exonic MLL3 Nonsynonymous 4/4 chr7 151879265 G T
21 Exonic MLL3 Stopgain -- chr7 151900023 A T
13 Exonic MLL3 Stopgain -- chr7 151874686 G A
21 Exonic MLL3 Nonsynonymous 3/4 chr7 151875073 G A
30 Exonic MLL3 Nonsynonymous 3/3 chr7 151927021 C A
28 Exonic MLL3 Nonsynonymous 1/4 chr7 151919690 C T
33 Exonic MLL3 Nonsynonymous 3/4 chr7 151970877 G A
20 Exonic MLL3 Nonsynonymous 2/4 chr7 151945568 C T
  1. “Damaging” is the number of mutation analysis programs (out of four) that predict altered protein function as a result of the variant. Please note that these programs do not make predictions for stopgain, frameshift, or splice site change mutations.