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
COSM3737053
Gene name
CDKN2A
AA mutation
p.M53I (Substitution - Missense, position 53, MI)
CDS mutation
c.159G>A (Substitution, position 159, GA)
Nucleotides inserted
n/a
Genomic coordinates
GRCh38, 9:21971200..21971200, view Ensembl contig
CDD
NP_478104.2
HomoloGene
n/a
Ever confirmed somatic?
Yes
FATHMM prediction
Pathogenic (score 0.98)
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

This section shows pathways affected by this mutation.

Source Pathways
Reactome Cell Cycle, Mitotic
WikiPathway Cell cycle
WikiPathway Apoptosis
WikiPathway G1 to S cell cycle control
WikiPathway Senescence and Autophagy

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