| Variant ID | 28769 |
|---|---|
| Entrez Gene ID | 254065 |
| Gene | BRWD3 (GeneCards) |
| Location | hg19 X:80217380-80217380
hg38 X:80961881-80961881 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000023.10:g.80217380 T>C (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | -0.275511 (Deleterious) |
| FATHMM raw prediction score | 0.22084 (Tolerated) |
| Deleterious probability by DeFine | 0.0452 (Neutral) |
| Entrez Gene ID | 254065 (NCBI Gene) |
|---|---|
| Official Gene Symbol | BRWD3 (GeneCards) |
| Number of variants in BRWD3 in this database | 3 (view all the variants) |
| Full name | bromodomain and WD repeat domain containing 3 |
| Band | Xq21.1 |
| Other IDs | Vega: OTTHUMG00000021908 OMIM: 300553 HGNC: HGNC:17342 Ensembl: ENSG00000165288 |
| Other names | BRODL, MRX93 |
| 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] |
| Individual ID | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |