D3828G (p.Asp3828Gly) variant of LRP2 (P98164)
D3828G (p.Asp3828Gly) in LRP2 (P98164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Donnai-Barrow syndrome. The record also includes published literature and structural context.
D3828G (p.Asp3828Gly) variant details
- p.Asp3828Gly
- UniProt VAR 075535
- Likely pathogenic
- Donnai-Barrow syndrome
- Missense
- ClinVar: Likely pathogenic (Donnai-Barrow syndrome)
- EBI: Variant of uncertain significance (found in patients with a phenotype suggestive of Stickler syndro)
- UniProt: Uncertain significance (found in patients with a phenotype suggestive of Stickler syndro)
- Structural context available
- Cited in: Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive… (PMID 23992033)