ARID1B Chromosome 6
AT-rich interaction domain 1B
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What This Gene Does
This locus encodes an AT-rich DNA interacting domain-containing protein. The encoded protein is a component of the SWI/SNF chromatin remodeling complex and may play a role in cell-cycle activation. The protein encoded by this locus is similar to AT-rich interactive domain-containing protein 1A. These two proteins function as alternative, mutually exclusive ARID-subunits of the SWI/SNF complex. The associated complexes play opposing roles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
Gene Info
Gene Group
"AT-rich interaction domain containing|Armadillo like helical domain containing|BAF complex subunits"
Locus Type
gene with protein product
Location
6q25.3
Ensembl
ENSG00000049618
Associated Conditions (42)
Inborn genetic diseases
Coffin-Siris syndrome 1
Coffin-Siris syndrome
ARID1B-related disorder
See cases
ARID1B-related BAFopathy
Intellectual disability
Coffin Siris/Intellectual Disability
Microcephaly
Neurodevelopmental delay
Hereditary ataxia
6 conditions
Neoplasm
dysmorphy
intellectual deficiency
Marfanoid habitus and intellectual disability
Hirsutism
Wiedemann-Steiner syndrome
Neurodevelopmental disorder
Congenital cerebellar hypoplasia
+22 more conditions
Key Variants
RS1022306360
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1040995163
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1044746171
Conflicting classifications of pathogenicity
Inborn genetic diseases, Coffin-Siris syndrome 1, Inborn genetic diseases
Health Risk
RS1048427417
Conflicting classifications of pathogenicity
Inborn genetic diseases, Coffin-Siris syndrome 1, Inborn genetic diseases
Health Risk
RS1049209609
Conflicting classifications of pathogenicity
Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
Health Risk
RS1050569986
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1057522183
Conflicting classifications of pathogenicity
Health Risk
RS1057522610
Conflicting classifications of pathogenicity
Health Risk
RS1057524160
Conflicting classifications of pathogenicity
Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
Health Risk
RS1164896895
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1165021634
Conflicting classifications of pathogenicity
Health Risk
RS1171803835
Conflicting classifications of pathogenicity
Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
Health Risk
All Variants (625)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1554226001 | Health Risk | Pathogenic | Coffin-Siris syndrome 1, Coffin-Siris syndrome 1 |
| RS1554226097 | Health Risk | Pathogenic | — |
| RS1554226131 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1554228806 | Health Risk | Pathogenic | — |
| RS1554229912 | Health Risk | Pathogenic | — |
| RS1554231205 | Health Risk | Pathogenic | ARID1B-related BAFopathy, Coffin-Siris syndrome 1, ARID1B-related BAFopathy |
| RS1554231260 | Health Risk | Pathogenic | — |
| RS1554231278 | Health Risk | Pathogenic | Medulloblastoma, Coffin-Siris syndrome 1, Medulloblastoma |
| RS1554231803 | Health Risk | Pathogenic | — |
| RS1554231814 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1554231830 | Health Risk | Pathogenic | — |
| RS1554231836 | Health Risk | Pathogenic | Coffin-Siris syndrome 1, Intellectual disability, Coffin-Siris syndrome 1 |
| RS1554231845 | Health Risk | Pathogenic | Coffin-Siris syndrome 1, Coffin-Siris syndrome 1 |
| RS1554231904 | Health Risk | Pathogenic | Coffin-Siris syndrome, Coffin-Siris syndrome 1, Inborn genetic diseases |
| RS1554232919 | Health Risk | Pathogenic | Coffin-Siris syndrome 1, ARID1B-related BAFopathy, Coffin-Siris syndrome 1 |
| RS1554232925 | Health Risk | Pathogenic | Coffin-Siris syndrome 1, Coffin-Siris syndrome 1 |
| RS1554232934 | Health Risk | Pathogenic | — |
| RS1554232959 | Health Risk | Pathogenic | Coffin-Siris syndrome 1, Coffin-Siris syndrome 1 |
| RS1554233122 | Health Risk | Pathogenic | Coffin-Siris syndrome 1, Coffin-Siris syndrome 1 |
| RS1554233166 | Health Risk | Pathogenic | — |
| RS1554233187 | Health Risk | Pathogenic | — |
| RS1554234341 | Health Risk | Pathogenic | Coffin-Siris syndrome 1, Coffin-Siris syndrome 1 |
| RS1554234424 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1554235028 | Health Risk | Pathogenic | — |
| RS1554235041 | Health Risk | Pathogenic | Coffin-Siris syndrome 1, Coffin-Siris syndrome 1 |
| RS1554235505 | Health Risk | Pathogenic | Coffin-Siris syndrome 1, Coffin-Siris syndrome 1 |
| RS1554235541 | Health Risk | Pathogenic | Coffin-Siris syndrome 1, Coffin-Siris syndrome 1 |
| RS1554235614 | Health Risk | Pathogenic | — |
| RS1554235699 | Health Risk | Pathogenic | — |
| RS1554235792 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1554235834 | Health Risk | Pathogenic | Coffin-Siris syndrome 1, ARID1B-related BAFopathy, Coffin-Siris syndrome 1 |
| RS1554235841 | Health Risk | Pathogenic | Coffin-Siris syndrome 1, Coffin-Siris syndrome 1 |
| RS1554235882 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS1554235934 | Health Risk | Pathogenic | — |
| RS1554235950 | Health Risk | Pathogenic | — |
| RS1554236027 | Health Risk | Pathogenic | Coffin-Siris syndrome 1, Coffin-Siris syndrome 1 |
| RS1554236030 | Health Risk | Pathogenic | — |
| RS1554236040 | Health Risk | Pathogenic | Coffin-Siris syndrome 1, ARID1B-related BAFopathy, Inborn genetic diseases |
| RS1554236045 | Health Risk | Pathogenic | — |
| RS1554236054 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1554236600 | Health Risk | Pathogenic | — |
| RS1554237050 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1554237335 | Health Risk | Pathogenic | Coffin-Siris syndrome 1, Inborn genetic diseases, Coffin-Siris syndrome 1 |
| RS1554237342 | Health Risk | Pathogenic | — |
| RS1554237606 | Health Risk | Pathogenic | — |
| RS1554237689 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1554237785 | Health Risk | Pathogenic | Coffin-Siris syndrome 1, Coffin-Siris syndrome 1 |
| RS1554237848 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1554237850 | Health Risk | Pathogenic | Coffin-Siris syndrome 1, ARID1B-related BAFopathy, Coffin-Siris syndrome 1 |
| RS1554237963 | Health Risk | Pathogenic | — |