| Variant ID | 14911 |
|---|---|
| Entrez Gene ID | 9184 |
| Gene | BUB3 (GeneCards) |
| Location | hg19 10:124949661-124949661
hg38 10:123190145-123190145 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.124949661 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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | -0.033887 (Deleterious) |
| FATHMM raw prediction score | 0.10388 (Tolerated) |
| Deleterious probability by DeFine | 0.477 (Neutral) |
| Entrez Gene ID | 9184 (NCBI Gene) |
|---|---|
| Official Gene Symbol | BUB3 (GeneCards) |
| Number of variants in BUB3 in this database | 10 (view all the variants) |
| Full name | BUB3, mitotic checkpoint protein |
| Band | 10q26.13 |
| Other IDs | Vega: OTTHUMG00000019197 OMIM: 603719 HGNC: HGNC:1151 Ensembl: ENSG00000154473 |
| Other names | BUB3L, hBUB3 |
| Summary | This gene encodes a protein involved in spindle checkpoint function. The encoded protein contains four WD repeat domains and has sequence similarity with the yeast BUB3 protein. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.23 (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; |