Y126D (p.Tyr126Asp) variant of SMARCE1 (Q969G3)
Y126D (p.Tyr126Asp) in SMARCE1 (Q969G3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial meningioma. The record also includes published literature and structural context.
Y126D (p.Tyr126Asp) variant details
- p.Tyr126Asp
- rs2508603823
- ClinGen CA399366783
- ClinVar RCV003640292
- Pathogenic
- Familial meningioma
- Missense
- ClinVar: Pathogenic (Familial meningioma)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)