| Variant ID | 12683 |
|---|---|
| Entrez Gene ID | 10221 |
| Gene | TRIB1 (GeneCards) |
| Location | hg19 8:126786987-126786987
hg38 8:125774743-125774743 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.126786987 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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2975 |
| CADD Raw score (version 1.3) | 0.118298 (Deleterious) |
| FATHMM raw prediction score | 0.09275 (Tolerated) |
| Deleterious probability by DeFine | 0.088 (Neutral) |
| Entrez Gene ID | 10221 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TRIB1 (GeneCards) |
| Number of variants in TRIB1 in this database | 17 (view all the variants) |
| Full name | tribbles pseudokinase 1 |
| Band | 8q24.13 |
| Other IDs | Vega: OTTHUMG00000165007 OMIM: 609461 HGNC: HGNC:16891 Ensembl: ENSG00000173334 |
| Other names | C8FW, GIG2, TRB1, GIG-2, SKIP1, TRB-1 |
| Summary | None |
| Individual ID | 29217584.19 (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; |