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.H213N (Substitution - Missense, position 213, H➞N)
- CDS mutation
c.637C>A (Substitution, position 637, C➞A)
- Nucleotides inserted
- Genomic coordinates
- GRCh37, 3:176767850..176767850, view Ensembl contig
- 69382, view the multiple sequence alignment
- Ever confirmed somatic?
- FATHMM prediction
- Pathogenic (score 1.00)
- Drug resistance