| Variant ID | 8600 |
|---|---|
| Entrez Gene ID | 10111 |
| Gene | RAD50 (GeneCards) |
| Location | hg19 5:131985931-131985931
hg38 5:132650239-132650239 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.131985931 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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1 |
| CADD Raw score (version 1.3) | 0.531503 (Deleterious) |
| FATHMM raw prediction score | 0.30854 (Tolerated) |
| Deleterious probability by DeFine | 0.0682 (Neutral) |
| Entrez Gene ID | 10111 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RAD50 (GeneCards) |
| Number of variants in RAD50 in this database | 2 (view all the variants) |
| Full name | RAD50 double strand break repair protein |
| Band | 5q31.1 |
| Other IDs | Vega: OTTHUMG00000059613 OMIM: 604040 HGNC: HGNC:9816 Ensembl: ENSG00000113522 |
| Other names | NBSLD, RAD502, hRad50 |
| Summary | The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protein complex binds to DNA and displays numerous enzymatic activities that are required for nonhomologous joining of DNA ends. This protein, cooperating with its partners, is important for DNA double-strand break repair, cell cycle checkpoint activation, telomere maintenance, and meiotic recombination. Knockout studies of the mouse homolog suggest this gene is essential for cell growth and viability. Mutations in this gene are the cause of Nijmegen breakage syndrome-like disorder.[provided by RefSeq, Apr 2010] |
| Individual ID | 29217584.16 (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; |