D176N (p.Asp176Asn) variant of TBX20 (T-box transcription factor TBX20)
D176N (p.Asp176Asn) in TBX20 (T-box transcription factor TBX20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Atrial septal defect 4. The record also includes structural context.
D176N (p.Asp176Asn) variant details
- p.Asp176Asn
- ExAC rs764328696
- gnomAD rs764328696
- Likely pathogenic
- Atrial septal defect 4
- Missense
- ClinVar: Likely pathogenic (Atrial septal defect 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available