D140G (p.Asp140Gly) variant of DDX41 (Q9UJV9)
D140G (p.Asp140Gly) in DDX41 (Q9UJV9) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes population frequency data, published literature, and structural context.
D140G (p.Asp140Gly) variant details
- p.Asp140Gly
- rs762890562
- ClinGen CA280919
- ClinVar RCV000193600
- ClinVar RCV000210272
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms. (PMID 25920683)
- Cited in: Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies. (PMID 26712909)