Q23* (p.Gln23Ter) variant of MLC1 (Membrane protein MLC1)
Q23* (p.Gln23Ter) 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.
Q23* (p.Gln23Ter) variant details
- p.Gln23Ter
- rs1057517228
- ClinGen CA16042032
- ClinVar RCV000410294
- ClinVar RCV003669145
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Megalencephalic Leukoencephalopathy with Subcortical Cysts. (PMID 20301707)