D437A (p.Asp437Ala) variant of NOTCH2 (Q04721)
D437A (p.Asp437Ala) in NOTCH2 (Q04721) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome. The record also includes structural context.
D437A (p.Asp437Ala) variant details
- p.Asp437Ala
- TOPMed rs1651191147
- Likely pathogenic
- Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome
- Missense
- ClinVar: Likely pathogenic (Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney s)
- UniProt: Likely pathogenic
- Structural context available