C61* (p.Cys61Ter) variant of MLC1 (Membrane protein MLC1)
C61* (p.Cys61Ter) in MLC1 (Membrane protein MLC1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
C61* (p.Cys61Ter) variant details
- p.Cys61Ter
- rs1436214826
- ClinGen CA412111698
- ClinVar RCV001258387
- gnomAD rs1436214826
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Megalencephalic Leukoencephalopathy with Subcortical Cysts. (PMID 20301707)