| Variant ID | 16106 |
|---|---|
| Entrez Gene ID | 8638 |
| Gene | OASL (GeneCards) |
| Location | hg19 12:121547348-121547348
hg38 12:121109545-121109545 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.121547348 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -1.0893 |
| CADD Raw score (version 1.3) | -0.644224 (Deleterious) |
| FATHMM raw prediction score | 0.01697 (Tolerated) |
| Deleterious probability by DeFine | 0.0812 (Neutral) |
| Entrez Gene ID | 8638 (NCBI Gene) |
|---|---|
| Official Gene Symbol | OASL (GeneCards) |
| Number of variants in OASL in this database | 2 (view all the variants) |
| Full name | 2'-5'-oligoadenylate synthetase like |
| Band | 12q24.31 |
| Other IDs | Vega: OTTHUMG00000154981 OMIM: 603281 HGNC: HGNC:8090 Ensembl: ENSG00000135114 |
| Other names | OASL1, OASLd, TRIP14, TRIP-14, p59OASL, p59OASL, p59-OASL |
| Summary | None |
| Individual ID | 29217584.03 (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; |