R81M (p.Arg81Met) variant of TBX5 (T-box transcription factor TBX5)
R81M (p.Arg81Met) 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 Holt-Oram syndrome. The record also includes published literature and structural context.
R81M (p.Arg81Met) variant details
- p.Arg81Met
- rs2540475204
- ClinGen CA386862957
- ClinVar RCV003984874
- Uncertain significance
- Holt-Oram syndrome
- Missense
- ClinVar: Uncertain significance (Holt-Oram syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Holt-Oram Syndrome. (PMID 20301290)