W121L (p.Trp121Leu) variant of TBX5 (T-box transcription factor TBX5)
W121L (p.Trp121Leu) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Holt-Oram syndrome. The record also includes published literature and structural context.
W121L (p.Trp121Leu) variant details
- p.Trp121Leu
- rs2540472643
- ClinGen CA386862446
- ClinVar RCV003984876
- Likely pathogenic
- Holt-Oram syndrome
- Missense
- ClinVar: Likely pathogenic (Holt-Oram syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Holt-Oram Syndrome. (PMID 20301290)