| Variant ID | 7532 |
|---|---|
| Entrez Gene ID | 7204 |
| Gene | TRIO (GeneCards) |
| Location | hg19 5:14504071-14504071
hg38 5:14503962-14503962 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.14504071 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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.5563 |
| CADD Raw score (version 1.3) | -0.558002 (Deleterious) |
| FATHMM raw prediction score | 0.09976 (Tolerated) |
| Deleterious probability by DeFine | 0.8268 (Deleterious) |
| Entrez Gene ID | 7204 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TRIO (GeneCards) |
| Number of variants in TRIO in this database | 5 (view all the variants) |
| Full name | trio Rho guanine nucleotide exchange factor |
| Band | 5p15.2 |
| Other IDs | Vega: OTTHUMG00000131057 OMIM: 601893 HGNC: HGNC:12303 Ensembl: ENSG00000038382 |
| Other names | tgat, MEBAS, MRD44, ARHGEF23 |
| Summary | This gene encodes a large protein that functions as a GDP to GTP exchange factor. This protein promotes the reorganization of the actin cytoskeleton, thereby playing a role in cell migration and growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] |
| 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; |