| Variant ID | 18035 |
|---|---|
| Entrez Gene ID | 5890 |
| Gene | RAD51B (GeneCards) |
| Location | hg19 14:68823809-68823809
hg38 14:68357092-68357092 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000014.8:g.68823809 G>A (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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2167 |
| CADD Raw score (version 1.3) | -0.014767 (Deleterious) |
| FATHMM raw prediction score | 0.09097 (Tolerated) |
| Deleterious probability by DeFine | 0.0493 (Neutral) |
| Entrez Gene ID | 5890 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RAD51B (GeneCards) |
| Number of variants in RAD51B in this database | 19 (view all the variants) |
| Full name | RAD51 paralog B |
| Band | 14q24.1 |
| Other IDs | Vega: OTTHUMG00000157530 OMIM: 602948 HGNC: HGNC:9822 Ensembl: ENSG00000182185 |
| Other names | REC2, R51H2, RAD51L1 |
| Summary | The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are evolutionarily conserved proteins essential for DNA repair by homologous recombination. This protein has been shown to form a stable heterodimer with the family member RAD51C, which further interacts with the other family members, such as RAD51, XRCC2, and XRCC3. Overexpression of this gene was found to cause cell cycle G1 delay and cell apoptosis, which suggested a role of this protein in sensing DNA damage. Rearrangements between this locus and high mobility group AT-hook 2 (HMGA2, GeneID 8091) have been observed in uterine leiomyomata. [provided by RefSeq, Mar 2016] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |