C140Y (p.Cys140Tyr) variant of TBX3 (T-box transcription factor TBX3)
C140Y (p.Cys140Tyr) in TBX3 (T-box transcription factor TBX3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ulnar-mammary syndrome.
C140Y (p.Cys140Tyr) variant details
- p.Cys140Tyr
- rs2499797118
- ClinGen CA386871958
- ClinVar RCV002833002
- Uncertain significance
- Ulnar-mammary syndrome
- Missense
- ClinVar: Uncertain significance (Ulnar-mammary syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance