S104A (p.Ser104Ala) variant of BCL11B (B-cell lymphoma/leukemia 11B)
S104A (p.Ser104Ala) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes structural context.
S104A (p.Ser104Ala) variant details
- p.Ser104Ala
- Ensembl rs2139953582
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available