F130C (p.Phe130Cys) variant of TBX20 (T-box transcription factor TBX20)
F130C (p.Phe130Cys) in TBX20 (T-box transcription factor TBX20) 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.
F130C (p.Phe130Cys) variant details
- p.Phe130Cys
- rs2546996540
- ClinGen CA367264845
- ClinVar RCV002366396
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available