| Variant ID | 4576 |
|---|---|
| Entrez Gene ID | 29994 |
| Gene | BAZ2B (GeneCards) |
| Location | hg19 2:160402879-160402879
hg38 2:159546368-159546368 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.160402879 C>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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.5242 |
| CADD Raw score (version 1.3) | -0.283517 (Deleterious) |
| FATHMM raw prediction score | 0.08511 (Tolerated) |
| Deleterious probability by DeFine | 0.1489 (Neutral) |
| Entrez Gene ID | 29994 (NCBI Gene) |
|---|---|
| Official Gene Symbol | BAZ2B (GeneCards) |
| Number of variants in BAZ2B in this database | 6 (view all the variants) |
| Full name | bromodomain adjacent to zinc finger domain 2B |
| Band | 2q24.2 |
| Other IDs | Vega: OTTHUMG00000132027 OMIM: 605683 HGNC: HGNC:963 Ensembl: ENSG00000226266 |
| Other names | WALp4 |
| Summary | This gene belongs to the bromodomain gene family. Members of this gene family encode proteins that are integral components of chromatin remodeling complexes. The encoded protein showed strong preference for the activating H3K14Ac mark in a histone peptide screen, suggesting a potential role in transcriptional activation. This gene may be associated with susceptibility to sudden cardiac death (SCD). [provided by RefSeq, Aug 2016] |
| Individual ID | 29217584.24 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |