Q9* (p.Gln9Ter) variant of RBM20 (RNA-binding protein 20)
Q9* (p.Gln9Ter) in RBM20 (RNA-binding protein 20) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature and structural context.
Q9* (p.Gln9Ter) variant details
- p.Gln9Ter
- rs1861836936
- ClinGen CA378527314
- ClinVar RCV001318711
- Ensembl rs1861836936
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of… (PMID 35802134)