A17T (p.Ala17Thr) variant of LAMB3 (Laminin subunit beta-3)
A17T (p.Ala17Thr) in LAMB3 (Laminin subunit beta-3) 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.
A17T (p.Ala17Thr) variant details
- p.Ala17Thr
- gnomAD rs1236140290
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available