SETD1B Chromosome 12
SET domain containing 1B, histone lysine methyltransferase
Upload your DNA to see your personal genotypes for variants in SETD1B.
What This Gene Does
SET1B is a component of a histone methyltransferase complex that produces trimethylated histone H3 at Lys4 (Lee et al., 2007 [PubMed 17355966]).[supplied by OMIM, Mar 2008]
Gene Info
Gene Group
"Histone lysine methyltransferases|RNA binding motif containing|SET domain containing"
Locus Type
gene with protein product
Location
12q24.31
Ensembl
ENSG00000139718
Associated Conditions (9)
Inborn genetic diseases
Intellectual developmental disorder with seizures and language delay
SETD1B-related disorder
Epilepsy
Neurodevelopmental disorder
See cases
Neoplasm
SETD1B-associated disorder
Neurodevelopmental delay
Key Variants
RS1332815208
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual developmental disorder with seizures and language delay, Inborn genetic diseases
Health Risk
RS1333865285
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143926204
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1480059016
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS188280904
Conflicting classifications of pathogenicity
SETD1B-related disorder, SETD1B-related disorder
Health Risk
RS200717752
Conflicting classifications of pathogenicity
Intellectual developmental disorder with seizures and language delay, Inborn genetic diseases, Intellectual developmental disorder with seizures and language delay
Health Risk
RS2137589027
Conflicting classifications of pathogenicity
Health Risk
RS2500252673
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS374027175
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS375525174
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS775815898
Conflicting classifications of pathogenicity
Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay
Health Risk
RS780252152
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (76)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1332815208 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual developmental disorder with seizures and language delay, Inborn genetic diseases |
| RS1333865285 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS143926204 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1480059016 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS188280904 | Health Risk | Conflicting classifications of pathogenicity | SETD1B-related disorder, SETD1B-related disorder |
| RS200717752 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder with seizures and language delay, Inborn genetic diseases, Intellectual developmental disorder with seizures and language delay |
| RS2137589027 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2500252673 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS374027175 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS375525174 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS775815898 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay |
| RS780252152 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS781420489 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS866262581 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder with seizures and language delay, Inborn genetic diseases, Intellectual developmental disorder with seizures and language delay |
| RS918413316 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1419959359 | Health Risk | Likely pathogenic | Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay |
| RS1592977444 | Health Risk | Likely pathogenic | Epilepsy, Epilepsy |
| RS1875933090 | Health Risk | Likely pathogenic | — |
| RS1876920040 | Health Risk | Likely pathogenic | Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay |
| RS1877026127 | Health Risk | Likely pathogenic | Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay |
| RS2137541869 | Health Risk | Likely pathogenic | — |
| RS2137544259 | Health Risk | Likely pathogenic | Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay |
| RS2137568213 | Health Risk | Likely pathogenic | — |
| RS2137589126 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2137589783 | Health Risk | Likely pathogenic | Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay |
| RS2500183969 | Health Risk | Likely pathogenic | Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay |
| RS2500200230 | Health Risk | Likely pathogenic | Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay |
| RS2500200910 | Health Risk | Likely pathogenic | Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay |
| RS2500212165 | Health Risk | Likely pathogenic | Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay |
| RS2500212621 | Health Risk | Likely pathogenic | — |
| RS2500221145 | Health Risk | Likely pathogenic | Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay |
| RS2500222599 | Health Risk | Likely pathogenic | SETD1B-related disorder, SETD1B-related disorder |
| RS2500232999 | Health Risk | Likely pathogenic | Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay |
| RS2500233324 | Health Risk | Likely pathogenic | Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay |
| RS2500238557 | Health Risk | Likely pathogenic | Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay |
| RS2500238632 | Health Risk | Likely pathogenic | Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay |
| RS2500252391 | Health Risk | Likely pathogenic | Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay |
| RS2500260535 | Health Risk | Likely pathogenic | Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay |
| RS2500260789 | Health Risk | Likely pathogenic | Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay |
| RS1239720346 | Health Risk | Pathogenic | — |
| RS1244562984 | Health Risk | Pathogenic | Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay |
| RS12814488 | Health Risk | Pathogenic | Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay |
| RS1592988488 | Health Risk | Pathogenic | — |
| RS1876191880 | Health Risk | Pathogenic | Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay |
| RS1876334453 | Health Risk | Pathogenic | Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay |
| RS1876610129 | Health Risk | Pathogenic | Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay |
| RS1877023557 | Health Risk | Pathogenic | Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay |
| RS2137544133 | Health Risk | Pathogenic | Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay |
| RS2137552415 | Health Risk | Pathogenic | Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay |
| RS2137553018 | Health Risk | Pathogenic | Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay |