GRCh38 · COSMIC v82

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
COSM48419
Gene name
HEMK1
AA mutation
p.M271L (Substitution - Missense, position 271, ML)
CDS mutation
c.811A>T (Substitution, position 811, AT)
Nucleotides inserted
n/a
Genomic coordinates
GRCh38, 3:50579884..50579884, view Ensembl contig
CDD
NP_057257.1
HomoloGene
6815, view the multiple sequence alignment
Ever confirmed somatic?
Yes
FATHMM prediction
Pathogenic (score 0.93)
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 Histology Pubmed ID Zygosity Somatic Status Sample Source 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