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.R479L (Substitution - Missense, position 479, R➞L)
- CDS mutation
c.1436G>T (Substitution, position 1436, G➞T)
- Nucleotides inserted
- Genomic coordinates
- GRCh38, 4:152326214..152326214, view Ensembl contig
- 117451, view the multiple sequence alignment
- Ever confirmed somatic?
- FATHMM prediction
- Pathogenic (score 0.99)
- Drug resistance