E383K (p.Glu383Lys) variant of TBX3 (T-box transcription factor TBX3)
E383K (p.Glu383Lys) 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.
E383K (p.Glu383Lys) variant details
- p.Glu383Lys
- rs2499788177
- ClinGen CA386869645
- ClinVar RCV002856132
- Uncertain significance
- Ulnar-mammary syndrome
- Missense
- ClinVar: Uncertain significance (Ulnar-mammary syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance