T52N (p.Thr52Asn) variant of PTPN11 (Q06124)
T52N (p.Thr52Asn) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The record also includes structural context.
T52N (p.Thr52Asn) variant details
- p.Thr52Asn
- Ensembl rs397507503
- Uncertain significance
- RASopathy
- Missense
- ClinVar: Uncertain significance (RASopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available