A131T (p.Ala131Thr) variant of WT1 (Wilms tumor protein)
A131T (p.Ala131Thr) in WT1 (Wilms tumor protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes published literature.
A131T (p.Ala131Thr) variant details
- p.Ala131Thr
- UniProt VAR 043798
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance (in a patient with hypospadias)
- UniProt: Uncertain significance (in a patient with hypospadias)
- Cited in: Mutation analysis of five candidate genes in Chinese patients with hypospadias. (PMID 15266301)