DDX41 Chromosome 5

DEAD-box helicase 41
127 variants 127 Health Risk

Upload your DNA to see your personal genotypes for variants in DDX41.

What This Gene Does
DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a member of the DEAD box protein family and interacts with several spliceosomal proteins. In addition, the encoded protein may recognize the bacterial second messengers cyclic di-GMP and cyclic di-AMP, resulting in the induction of genes involved in the innate immune response. [provided by RefSeq, Jan 2017]
Gene Info
Gene Group
"DEAD-box helicases|Spliceosomal C complex|Spliceosomal P complex"
Locus Type
gene with protein product
Location
5q35.3
Ensembl
ENSG00000183258
Associated Conditions (9)
DDX41-related disorder
DDX41-related hematologic malignancy predisposition syndrome
Inborn genetic diseases
Myelodysplastic syndrome
Bone marrow hypocellularity
Myelodysplasia
Acute myeloid leukemia
Inherited acute myeloid leukemia
Focal segmental glomerulosclerosis 9
Key Variants
RS1014402897
Conflicting classifications of pathogenicity
DDX41-related disorder, DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
Health Risk
RS1038728566
Conflicting classifications of pathogenicity
DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome
Health Risk
RS1162015461
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1175013945
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1234975047
Conflicting classifications of pathogenicity
DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome
Health Risk
RS1245318068
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1248764875
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1289634533
Conflicting classifications of pathogenicity
DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome
Health Risk
RS1356103698
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138435584
Conflicting classifications of pathogenicity
DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome
Health Risk
RS139112542
Conflicting classifications of pathogenicity
DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome
Health Risk
RS139780256
Conflicting classifications of pathogenicity
DDX41-related hematologic malignancy predisposition syndrome, DDX41-related disorder, Inborn genetic diseases
Health Risk
All Variants (127)
RSID Category Clinical Significance Conditions
RS1014402897 Health Risk Conflicting classifications of pathogenicity DDX41-related disorder, DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
RS1038728566 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome
RS1162015461 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1175013945 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1234975047 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome
RS1245318068 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1248764875 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1289634533 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome
RS1356103698 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138435584 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome
RS139112542 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome
RS139780256 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, DDX41-related disorder, Inborn genetic diseases
RS1399847240 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142143752 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome
RS144762739 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome
RS146175373 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1479333618 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1481876340 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149122003 Health Risk Conflicting classifications of pathogenicity DDX41-related disorder, Inborn genetic diseases, DDX41-related disorder
RS150205465 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome
RS1761092414 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome
RS1761097601 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome
RS1761259465 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS187714514 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, DDX41-related disorder, Inborn genetic diseases
RS200471726 Health Risk Conflicting classifications of pathogenicity DDX41-related disorder, Inborn genetic diseases, DDX41-related disorder
RS200567842 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome
RS200664784 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome
RS200707924 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome
RS2127435833 Health Risk Conflicting classifications of pathogenicity Myelodysplastic syndrome, Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome
RS2127436133 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2127437490 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome
RS2532075001 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2532080974 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2532083613 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome
RS2532091739 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome
RS2532091973 Health Risk Conflicting classifications of pathogenicity
RS368999712 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, DDX41-related disorder, Inborn genetic diseases
RS370129260 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome
RS371460149 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, DDX41-related disorder, Inborn genetic diseases
RS376128262 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
RS376867329 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, DDX41-related disorder, Inborn genetic diseases
RS377695856 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS554494724 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS559527781 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome
RS573545872 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, DDX41-related disorder, Inborn genetic diseases
RS61736559 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome
RS745544108 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome
RS746011550 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DDX41-related disorder, Inborn genetic diseases
RS746166328 Health Risk Conflicting classifications of pathogenicity Bone marrow hypocellularity, DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
RS747056004 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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