A345T (p.Ala345Thr) variant of TBX3 (T-box transcription factor TBX3)
A345T (p.Ala345Thr) 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.
A345T (p.Ala345Thr) variant details
- p.Ala345Thr
- rs2499790211
- ClinGen CA386869896
- ClinVar RCV003621068
- Uncertain significance
- Ulnar-mammary syndrome
- Missense
- ClinVar: Uncertain significance (Ulnar-mammary syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance