Variant (rsID / SNP)
rs762890562
rs762890562 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DDX41. Location: chromosome 5, position 176,942,945. Clinical significance in the table: Pathogenic.
Reference-table entries
DDX41Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 5:176942945
- Cytoband
- 5q35.3
- HGVS
- NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer)
Associated conditions / phenotypes
Acute myeloid leukemia|DDX41-related hematologic malignancy predisposition syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.