1) Currently, mitochondrial gene titles imported from the ClinGen Allele Registry (CAR) do not show the amino acid change for protein-coding variants. This is problematic for mitochondrial researchers using the VCI. We need to work with the CAR to bring in the full titles, including the protein-coding component. An example of a protein-coding mitochondrial variant is (ClinVarID:9689 ; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA120625).
2) We also need to look at #1175 to bring in the correct titles to the gene-centric tab, via the CAR
3) Check that mitochondrial gene variants in the GCI are also displayed correctly
wrightmw
commented
2 years ago
1) Currently, mitochondrial gene titles imported from the ClinGen Allele Registry (CAR) do not show the amino acid change for protein-coding variants. This is problematic for mitochondrial researchers using the VCI. We need to work with the CAR to bring in the full titles, including the protein-coding component. An example of a protein-coding mitochondrial variant is (ClinVarID:9689 ; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA120625).
2) We also need to look at #1175 to bring in the correct titles to the gene-centric tab, via the CAR
3) Check that mitochondrial gene variants in the GCI are also displayed correctly