BRWD3 bromodomain and WD repeat domain containing 3
Gene ID: 254065, updated on 4-Jan-2025Gene type: protein coding
Also known as: BRODL; MRX93; DCAF20; XLID93
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- Go to complete Gene record for BRWD3
- Go to Variation Viewer for BRWD3 variants
Summary
The protein encoded by this gene contains a bromodomain and several WD repeats. It is thought to have a chromatin-modifying function, and may thus play a role in transcription. Mutations in this gene are associated with a spectrum of cognitive disabilities and X-linked macrocephaly. This gene is also associated with translocations in patients with B-cell chronic lymphocytic leukemia. [provided by RefSeq, Jul 2017]
Associated conditions
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| Description | Tests |
|---|---|
| Intellectual disability, X-linked 93 | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2022-08-24) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2022-08-24) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- Xq21.1
- Sequence:
- Chromosome: X; NC_000023.11 (80669503..80809877, complement)
- Total number of exons:
- 42
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for BRWD3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- BRWD3 @ LOVD
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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