| Variant ID | 16950 |
|---|---|
| Entrez Gene ID | 6926 |
| Gene | TBX3 (GeneCards) |
| Location | hg19 12:116159709-116159709
hg38 12:115721904-115721904 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.116159709 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2648 |
| CADD Raw score (version 1.3) | 0.325071 (Deleterious) |
| FATHMM raw prediction score | 0.29515 (Tolerated) |
| Deleterious probability by DeFine | 0.5332 (Deleterious) |
| Entrez Gene ID | 6926 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TBX3 (GeneCards) |
| Number of variants in TBX3 in this database | 16 (view all the variants) |
| Full name | T-box 3 |
| Band | 12q24.21 |
| Other IDs | Vega: OTTHUMG00000169586 OMIM: 601621 HGNC: HGNC:11602 Ensembl: ENSG00000135111 |
| Other names | UMS, XHL, TBX3-ISO |
| Summary | This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined. [provided by RefSeq, Jul 2008] |
| 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; |