| Variant ID | 10058 |
|---|---|
| Entrez Gene ID | 9096 |
| Gene | TBX18 (GeneCards) |
| Location | hg19 6:85871506-85871506
hg38 6:85161788-85161788 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.85871506 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.2478 |
| CADD Raw score (version 1.3) | 0.604668 (Deleterious) |
| FATHMM raw prediction score | 0.98971 (Tolerated) |
| Deleterious probability by DeFine | 0.9493 (Deleterious) |
| Entrez Gene ID | 9096 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TBX18 (GeneCards) |
| Number of variants in TBX18 in this database | 11 (view all the variants) |
| Full name | T-box 18 |
| Band | 6q14.3 |
| Other IDs | Vega: OTTHUMG00000015129 OMIM: 604613 HGNC: HGNC:11595 Ensembl: ENSG00000112837 |
| Other names | CAKUT2 |
| Summary | This genes codes for a member of an evolutionarily conserved family of transcription factors that plays a crucial role in embryonic development. The family is characterized by the presence of the DNA-binding T-box domain and is divided into five sub-families based on sequence conservation in this domain. The encoded protein belongs to the vertebrate specific Tbx1 sub-family. The protein acts as a transcriptional repressor by antagonizing transcriptional activators in the T-box family. The protein forms homo- or heterodimers with other transcription factors of the T-box family or other transcription factors. [provided by RefSeq, Nov 2012] |
| Individual ID | 29217584.16 (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; |