| Variant ID | 3170 |
|---|---|
| Entrez Gene ID | 129563 |
| Gene | DIS3L2 (GeneCards) |
| Location | hg19 2:233170484-233170484
hg38 2:232305774-232305774 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.233170484 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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2793 |
| CADD Raw score (version 1.3) | 0.06754 (Deleterious) |
| FATHMM raw prediction score | 0.10465 (Tolerated) |
| Deleterious probability by DeFine | 0.1437 (Neutral) |
| Entrez Gene ID | 129563 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DIS3L2 (GeneCards) |
| Number of variants in DIS3L2 in this database | 6 (view all the variants) |
| Full name | DIS3 like 3'-5' exoribonuclease 2 |
| Band | 2q37.1 |
| Other IDs | Vega: OTTHUMG00000153385 OMIM: 614184 HGNC: HGNC:28648 Ensembl: ENSG00000144535 |
| Other names | FAM6A, PRLMNS, hDIS3L2 |
| Summary | The protein encoded by this gene is similar in sequence to 3'/5' exonucleolytic subunits of the RNA exosome. The exosome is a large multimeric ribonucleotide complex responsible for degrading various RNA substrates. Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Mar 2012] |
| 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; |