H373Q (p.His373Gln) variant of WT1 (Wilms tumor protein)
H373Q (p.His373Gln) in WT1 (Wilms tumor protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in DDS and WT1. The record also includes published literature.
H373Q (p.His373Gln) variant details
- p.His373Gln
- UniProt VAR 007747
- Pathogenic
- in DDS and WT1
- Missense
- EBI: Pathogenic (in DDS and WT1)
- UniProt: Pathogenic (in DDS and WT1)
- Cited in: Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms… (PMID 15150775)
- Cited in: Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion. (PMID 8388765)