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.I64I (Substitution - coding silent, position 64, I➞I)
- CDS mutation
c.192T>A (Substitution, position 192, T➞A)
- Nucleotides inserted
- Genomic coordinates
- GRCh38, 17:60301699..60301699, view Ensembl contig
- 13066, view the multiple sequence alignment
- Ever confirmed somatic?
- FATHMM prediction
- Pathogenic (score 0.92)
- Drug resistance