T47S (p.Thr47Ser) variant of TBX5 (T-box transcription factor TBX5)
T47S (p.Thr47Ser) 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.
T47S (p.Thr47Ser) variant details
- p.Thr47Ser
- rs2540477528
- ClinGen CA386863427
- ClinVar RCV002389459
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available