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.R492L (Substitution - Missense, position 492, R➞L)
- CDS mutation
c.1475G>T (Substitution, position 1475, G➞T)
- Nucleotides inserted
- Genomic coordinates
- GRCh38, 19:58549053..58549053, view Ensembl contig
- 21175, view the multiple sequence alignment
- Ever confirmed somatic?
- FATHMM prediction
- Pathogenic (score 0.94)
- Drug resistance