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.K57N (Substitution - Missense, position 57, K➞N)
- CDS mutation
c.171G>T (Substitution, position 171, G➞T)
- Nucleotides inserted
- Genomic coordinates
- GRCh38, 15:66435117..66435117, view Ensembl contig
- 2063, view the multiple sequence alignment
- Ever confirmed somatic?
- FATHMM prediction
- Pathogenic (score 0.91)
- Drug resistance