Q53H (p.Gln53His) variant of TBX20 (T-box transcription factor TBX20)
Q53H (p.Gln53His) 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.
Q53H (p.Gln53His) variant details
- p.Gln53His
- rs2546997521
- ClinGen CA367265362
- ClinVar RCV004521283
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available