This tab shows an overview of the mutation data [more details]
Gene Name:
MYLPF
Mutation Id:
COSM344431
AA Mutation:
p.E122K (Substitution - Missense, position 122, EK)
CDS Mutation:
c.364G>A (Substitution, position 364, GA)
GRCh38:
16:30377661..30377661, view Ensembl Contig
COSMIC Genome Browser:
16:30377661..30377661, view in COSMIC JBrowse
CDD:
NP_037424.2
Homologene:
22728, view the multiple sequence alignment.
Ever confirmed somatic:
No
FATHMM prediction:
Pathogenic (score 0.98)
This tab displays the distribution of mutated samples and tissue types. [more details]
This tab displays a table of muated samples, with tissue, histology and zygosity information. Publication information is also included, where available, with links to PUBMED. [more details]
Sample name Gene name Transcript Primary Tissue Histology Pubmed ID Zygosity Somatic Status Sample Source LOH Resistant Mutation Drugs
This tab displays a table of references for the mutation [more details]
Reference Title Author Year Journal Status COSMIC Pubmed