CAD - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @loveGeneticLandscapeMutations2012,
Overview
Due to minimal support in the original primary data and very few mutations reported in subsequent studies, this gene is very unlikely to be relevant in BL.
Relevance tier by entity
Warnings
<<Warn("The variants reported in this gene failed QC")>>
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 3.93 |
| BL | Thomas cohort | NA |
| BL | Panea cohort | NA |
Mutation pattern and selective pressure estimates
CAD Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr2 | 27455966 | T>A | Y983* |
Expression
Representative Mutation
Rating
★ ☆ ☆ ☆ ☆