G9R (p.Gly9Arg) variant of TBX5 (T-box transcription factor TBX5)
G9R (p.Gly9Arg) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The record also includes structural context.
G9R (p.Gly9Arg) variant details
- p.Gly9Arg
- Ensembl rs1017137525
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available