| Variant ID | 21854 |
|---|---|
| Entrez Gene ID | 2547 |
| Gene | XRCC6 (GeneCards) |
| Location | hg19 22:42032081-42032081
hg38 22:41636077-41636077 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000022.10:g.42032081 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 | 51304566 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0457 |
| CADD Raw score (version 1.3) | 0.030138 (Deleterious) |
| FATHMM raw prediction score | 0.18837 (Tolerated) |
| Deleterious probability by DeFine | 0.2987 (Neutral) |
| Entrez Gene ID | 2547 (NCBI Gene) |
|---|---|
| Official Gene Symbol | XRCC6 (GeneCards) |
| Number of variants in XRCC6 in this database | 3 (view all the variants) |
| Full name | X-ray repair cross complementing 6 |
| Band | 22q13.2 |
| Other IDs | Vega: OTTHUMG00000151190 OMIM: 152690 HGNC: HGNC:4055 Ensembl: ENSG00000196419 |
| Other names | ML8, KU70, TLAA, CTC75, CTCBF, G22P1 |
| Summary | The p70/p80 autoantigen is a nuclear complex consisting of two subunits with molecular masses of approximately 70 and 80 kDa. The complex functions as a single-stranded DNA-dependent ATP-dependent helicase. The complex may be involved in the repair of nonhomologous DNA ends such as that required for double-strand break repair, transposition, and V(D)J recombination. High levels of autoantibodies to p70 and p80 have been found in some patients with systemic lupus erythematosus. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.06 (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; |