G128* (p.Gly128Ter) variant of KRIT1 (O00522)
G128* (p.Gly128Ter) in KRIT1 (O00522) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
G128* (p.Gly128Ter) variant details
- p.Gly128Ter
- rs2131676374
- ClinGen CA368162647
- ClinVar RCV001384337
- Ensembl rs2131676374
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Hemorrhage from cavernous malformations of the brain: definition and reporting standards. Angioma Alliance Scientific… (PMID 18974380)
- Cited in: Familial Cerebral Cavernous Malformations. (PMID 20301470)