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.R132H (Substitution - Missense, position 132, R➞H)
- CDS mutation
c.395G>A (Substitution, position 395, G➞A)
- Nucleotides inserted
- Genomic coordinates
- GRCh38, 2:208248388..208248388, view Ensembl contig
- 21195, view the multiple sequence alignment
- Ever confirmed somatic?
- FATHMM prediction
- Pathogenic (score 0.94)
- Drug resistance