S30G (p.Ser30Gly) variant of TBX5 (T-box transcription factor TBX5)
S30G (p.Ser30Gly) 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.
S30G (p.Ser30Gly) variant details
- p.Ser30Gly
- rs2540477713
- ClinGen CA386863529
- ClinVar RCV002376038
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available