E383D (p.Glu383Asp) variant of NOD2 (Q9HC29)
E383D (p.Glu383Asp) in NOD2 (Q9HC29) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Blau syndrome; Regional enteritis.
E383D (p.Glu383Asp) variant details
- p.Glu383Asp
- rs2506403400
- ClinGen CA395868325
- ClinVar RCV003780084
- Pathogenic
- Blau syndrome; Regional enteritis
- Missense
- ClinVar: Pathogenic (Blau syndrome; Regional enteritis)
- EBI: Pathogenic (in BLAUS)
- UniProt: Pathogenic (in BLAUS)