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.E122K (Substitution - Missense, position 122, E➞K)
- CDS mutation
c.364G>A (Substitution, position 364, G➞A)
- Nucleotides inserted
- Genomic coordinates
- GRCh38, 16:30377661..30377661, view Ensembl contig
- 22728, view the multiple sequence alignment
- Ever confirmed somatic?
- FATHMM prediction
- Pathogenic (score 0.98)
- Drug resistance