| Variant ID | 21217 |
|---|---|
| Entrez Gene ID | 26164 |
| Gene | MTG2 (GeneCards) |
| Location | hg19 20:60763470-60763470
hg38 20:62188414-62188414 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000020.10:g.60763470 G>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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.236 |
| CADD Raw score (version 1.3) | 0.070028 (Deleterious) |
| FATHMM raw prediction score | 0.099 (Tolerated) |
| Deleterious probability by DeFine | 0.1045 (Neutral) |
| Entrez Gene ID | 26164 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MTG2 (GeneCards) |
| Number of variants in MTG2 in this database | 2 (view all the variants) |
| Full name | mitochondrial ribosome associated GTPase 2 |
| Band | 20q13.33 |
| Other IDs | Vega: OTTHUMG00000032897 OMIM: 610919 HGNC: HGNC:16239 Ensembl: ENSG00000101181 |
| Other names | ObgH1, GTPBP5, dJ1005F21.2 |
| Summary | Small G proteins, such as GTPBP5, act as molecular switches that play crucial roles in the regulation of fundamental cellular processes such as protein synthesis, nuclear transport, membrane trafficking, and signal transduction (Hirano et al., 2006 [PubMed 17054726]).[supplied by OMIM, Mar 2008] |
| Individual ID | 29217584.08 (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; |