| Variant ID | 12622 |
|---|---|
| Entrez Gene ID | 7486 |
| Gene | WRN (GeneCards) |
| Location | hg19 8:31133052-31133052
hg38 8:31275536-31275536 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.31133052 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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1652 |
| CADD Raw score (version 1.3) | -0.024347 (Deleterious) |
| FATHMM raw prediction score | 0.11472 (Tolerated) |
| Deleterious probability by DeFine | 0.432 (Neutral) |
| Entrez Gene ID | 7486 (NCBI Gene) |
|---|---|
| Official Gene Symbol | WRN (GeneCards) |
| Number of variants in WRN in this database | 8 (view all the variants) |
| Full name | Werner syndrome RecQ like helicase |
| Band | 8p12 |
| Other IDs | Vega: OTTHUMG00000163894 OMIM: 604611 HGNC: HGNC:12791 Ensembl: ENSG00000165392 |
| Other names | RECQ3, RECQL2, RECQL3 |
| Summary | This gene encodes a member of the RecQ subfamily of DNA helicase proteins. The encoded nuclear protein is important in the maintenance of genome stability and plays a role in DNA repair, replication, transcription and telomere maintenance. This protein contains a N-terminal 3' to 5' exonuclease domain, an ATP-dependent helicase domain and RQC (RecQ helicase conserved region) domain in its central region, and a C-terminal HRDC (helicase RNase D C-terminal) domain and nuclear localization signal. Defects in this gene are the cause of Werner syndrome, an autosomal recessive disorder characterized by accelerated aging and an elevated risk for certain cancers. [provided by RefSeq, Aug 2017] |
| Individual ID | 29217584.17 (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; |