Coffin-Siris Syndrome 1(ARID1B-related bafopathy)
An Autosomal dominant mode(s) within the Multisystemic disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Multisystemic disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | ARID1B/57492 | AT-rich interaction domain 1B | 6q25.3 | Chr6, NC_000006.12 (156776026..157210779) |
434754 nt | 26 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | SOX4/6659 | SRY-box transcription factor 4 | 6p22.3 | Chr6, NC_000006.12 (21593751..21598619) |
4869 nt | 1 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | SMARCD1/6602 | SWI/SNF related BAF chromatin remodeling complex subunit D1 | 12q13.12 | Chr12, NC_000012.12 (50085342..50100707) |
15366 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | BICRA/29998 | BRD4 interacting chromatin remodeling complex associated protein | 19q13.33 | Chr19, NC_000019.10 (47608196..47703277) |
95082 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | SMARCC2/6601 | SWI/SNF related BAF chromatin remodeling complex subunit C2 | 12q13.2 | Chr12, NC_000012.12 (56162359..56189483, complement) |
27125 nt | 29 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | SOX11/6664 | SRY-box transcription factor 11 | 2p25.2 | Chr2, NC_000002.12 (5692384..5701385) |
9002 nt | 1 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||