GRCh38 · COSMIC v89

Overview

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
COSM51177
Gene name
KIAA0913
AA mutation
p.K521K (Substitution - coding silent, position 521, KK)
CDS mutation
c.1563G>A (Substitution, position 1563, GA)
Nucleotides inserted
n/a
Genomic coordinates
GRCh38, 10:73797261..73797261, view Ensembl contig
CDD
NP_055852.2
HomoloGene
34313, view the multiple sequence alignment
Ever confirmed somatic?
Yes
FATHMM prediction
Pathogenic (score 0.94)
Remark
n/a
Recurrent
n/a
Drug resistance
n/a

Tissue distribution

This section displays the distribution of mutated samples and tissue types (top 5). You can see more information on our help pages.

Samples

This section displays a table of mutated samples, with tissue, histology and zygosity information. Publication information is also included, where available, with links to PUBMED.

Sample name Gene name Transcript Primary Tissue Tissue Subtype 1 Primary Histology Histology Subtype 1 Pubmed ID Zygosity Somatic Status Sample Type LOH Resistant Mutation Drugs

Pathways affected

No pathways affected.

References

This section displays a table of references for the mutation. You can see more information on the help pages.

Reference Title Author Year Journal Status COSMIC Pubmed