Actions
Feature #539
open
call synonymous amino acids that match pathogenic reference alleles (e.g. F5 R534R)
Status:
New
Priority:
Normal
Assigned To:
-
Target version:
-
Story points:
-
Description
The easiest example is F5 Leiden -- an amino acid "change" that happens to be reference. We want the nonsynonymous caller to (optionally) check the GET-Evidence flat file for instances of interesting/pathogenic gene + synonymous change, then check that position in the gene and call it as a "variant" rather than ignore it.
Related issues
No data to display
Actions