This section shows a general overview of the selected mutation. It describes the source of the mutation i.e gene name/sample name/tissue name with unique ID, and also shows the mutation syntax at the amino acid and nucleotide sequence level. You can see more information on our help pages.
- Mutation ID
- Gene name
- AA mutation
p.W126R (Substitution - Missense, position 126, W➞R)
- CDS mutation
c.376T>C (Substitution, position 376, T➞C)
- Nucleotides inserted
- Genomic coordinates
- GRCh38, 11:128911649..128911649, view Ensembl contig
- 20248, view the multiple sequence alignment
- Ever confirmed somatic?
- FATHMM prediction
- Pathogenic (score 0.99)
- Drug resistance