Variant Information
Gene | Coordinates (GRCh37) | Coordinates (GRCh38) | Nucleotide | Protein | Interpretation |
---|---|---|---|---|---|
IDH2 | chr15:90631935 | chr15:90088703 | c.418C>T | p.R140W | Pathogenic |
IDH2 | chr15:90631934 | chr15:90088702 | c.419G>A | p.R140Q | Pathogenic |
IDH2 | chr15:90631838 | chr15:90088606 | c.515G>A | p.R172K | Pathogenic |