| Variant ID | 22310 |
|---|---|
| Entrez Gene ID | 254065 |
| Gene | BRWD3 (GeneCards) |
| Location | hg19 X:80155435-80155435
hg38 X:80899936-80899936 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.80155435 A>T (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) | -0.028376 (Deleterious) |
| FATHMM raw prediction score | 0.09484 (Tolerated) |
| Deleterious probability by DeFine | 0.185 (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 | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |