| Variant ID | 16786 |
|---|---|
| Entrez Gene ID | 2802 |
| Gene | GOLGA3 (GeneCards) |
| Location | hg19 12:133347700-133347700
hg38 12:132771114-132771114 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.133347700 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 | 1.5321 |
| CADD Raw score (version 1.3) | 2.107958 (Deleterious) |
| FATHMM raw prediction score | 0.97129 (Tolerated) |
| Deleterious probability by DeFine | 0.8366 (Deleterious) |
| Entrez Gene ID | 2802 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GOLGA3 (GeneCards) |
| Number of variants in GOLGA3 in this database | 2 (view all the variants) |
| Full name | golgin A3 |
| Band | 12q24.33 |
| Other IDs | Vega: OTTHUMG00000168023 OMIM: 602581 HGNC: HGNC:4426 Ensembl: ENSG00000090615 |
| Other names | MEA-2, GCP170 |
| Summary | The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes a member of the golgin family of proteins which are localized to the Golgi. Its encoded protein has been postulated to play a role in nuclear transport and Golgi apparatus localization. Several alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Feb 2010] |
| Individual ID | 29217584.14 (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; |