| Variant ID | 21297 |
|---|---|
| Entrez Gene ID | 22803 |
| Gene | XRN2 (GeneCards) |
| Location | hg19 20:21349818-21349818
hg38 20:21369180-21369180 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000020.10:g.21349818 C>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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.232 |
| CADD Raw score (version 1.3) | 0.318064 (Deleterious) |
| FATHMM raw prediction score | 0.11711 (Tolerated) |
| Deleterious probability by DeFine | 0.0934 (Neutral) |
| Entrez Gene ID | 22803 (NCBI Gene) |
|---|---|
| Official Gene Symbol | XRN2 (GeneCards) |
| Number of variants in XRN2 in this database | 2 (view all the variants) |
| Full name | 5'-3' exoribonuclease 2 |
| Band | 20p11.22 |
| Other IDs | Vega: OTTHUMG00000032025 OMIM: 608851 HGNC: HGNC:12836 Ensembl: ENSG00000088930 |
| Other names | None |
| Summary | This gene encodes a 5'-3' exonuclease that promotes transcription termination at cotranscriptional cleavage sites. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015] |
| Individual ID | 29217584.10 (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; |