D118G (p.Asp118Gly) variant of TBX5 (T-box transcription factor TBX5)
D118G (p.Asp118Gly) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Holt-Oram syndrome. The record also includes published literature and structural context.
D118G (p.Asp118Gly) variant details
- p.Asp118Gly
- rs2540472661
- ClinGen CA386862485
- ClinVar RCV003984875
- Pathogenic
- Holt-Oram syndrome
- Missense
- ClinVar: Pathogenic (Holt-Oram syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Holt-Oram Syndrome. (PMID 20301290)