DHX37 Chromosome 12
DEAH-box helicase 37
Upload your DNA to see your personal genotypes for variants in DHX37.
What This Gene Does
This gene encodes a DEAD box protein. 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 this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"DEAH-box helicases|SSU processome"
Locus Type
gene with protein product
Location
12q24.31
Ensembl
ENSG00000150990
Associated Conditions (14)
Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
46
XY sex reversal 11
Inborn genetic diseases
DHX37-related disorder
Abnormal brain morphology
Male infertility with spermatogenesis disorder
Intellectual disability
Neurodevelopmental delay
Neurodevelopmental disorders
Male infertility with azoospermia or oligozoospermia due to single gene mutation
9 conditions
Differences in sex development
Seizure
Key Variants
RS112262509
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, 46, XY sex reversal 11
Health Risk
RS114271603
Conflicting classifications of pathogenicity
Health Risk
RS142965739
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144143802
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS148710712
Conflicting classifications of pathogenicity
DHX37-related disorder, DHX37-related disorder
Health Risk
RS148973591
Conflicting classifications of pathogenicity
DHX37-related disorder, Inborn genetic diseases, DHX37-related disorder
Health Risk
RS199842004
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201628977
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS369510919
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
Health Risk
RS369804720
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, Inborn genetic diseases, Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
Health Risk
RS373907134
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS374129932
Conflicting classifications of pathogenicity
Health Risk
All Variants (31)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112262509 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, 46, XY sex reversal 11 |
| RS114271603 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS142965739 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS144143802 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS148710712 | Health Risk | Conflicting classifications of pathogenicity | DHX37-related disorder, DHX37-related disorder |
| RS148973591 | Health Risk | Conflicting classifications of pathogenicity | DHX37-related disorder, Inborn genetic diseases, DHX37-related disorder |
| RS199842004 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201628977 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS369510919 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies |
| RS369804720 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, Inborn genetic diseases, Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies |
| RS373907134 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS374129932 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS747449936 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS747470305 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS779613772 | Health Risk | Conflicting classifications of pathogenicity | Abnormal brain morphology, 46, XY sex reversal 11 |
| RS780020505 | Health Risk | Conflicting classifications of pathogenicity | Male infertility with spermatogenesis disorder, Male infertility with spermatogenesis disorder |
| RS1060499737 | Health Risk | Likely pathogenic | Abnormal brain morphology, Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, Intellectual disability |
| RS1159235757 | Health Risk | Likely pathogenic | Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation |
| RS1277857720 | Health Risk | Likely pathogenic | Intellectual disability, Neurodevelopmental delay, Neurodevelopmental disorders |
| RS1424699115 | Health Risk | Likely pathogenic | 9 conditions, Neurodevelopmental disorders, 9 conditions |
| RS1954336215 | Health Risk | Likely pathogenic | 46, XY sex reversal 11, 46 |
| RS1954336272 | Health Risk | Likely pathogenic | 46, XY sex reversal 11, DHX37-related disorder |
| RS2135926480 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies |
| RS2135945152 | Health Risk | Likely pathogenic | 46, XY sex reversal 11, 46 |
| RS2547108707 | Health Risk | Likely pathogenic | Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation |
| RS2547114179 | Health Risk | Likely pathogenic | Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation |
| RS1384892917 | Health Risk | Pathogenic | 46, XY sex reversal 11, DHX37-related disorder |
| RS149331610 | Health Risk | Pathogenic | Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies |
| RS1954346640 | Health Risk | Pathogenic | 46, XY sex reversal 11, 46 |
| RS1954619788 | Health Risk | Pathogenic | 46, XY sex reversal 11, 46 |
| RS754186165 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, Neurodevelopmental delay, Seizure |