| Variant ID | 18852 |
|---|---|
| Entrez Gene ID | 5428 |
| Gene | POLG (GeneCards) |
| Location | hg19 15:89860852-89860852
hg38 15:89317621-89317621 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000015.9:g.89860852 T>C (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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4694 |
| CADD Raw score (version 1.3) | -0.386995 (Deleterious) |
| FATHMM raw prediction score | 0.1213 (Tolerated) |
| Deleterious probability by DeFine | 0.6637 (Deleterious) |
| Entrez Gene ID | 5428 (NCBI Gene) |
|---|---|
| Official Gene Symbol | POLG (GeneCards) |
| Number of variants in POLG in this database | 2 (view all the variants) |
| Full name | DNA polymerase gamma, catalytic subunit |
| Band | 15q26.1 |
| Other IDs | Vega: OTTHUMG00000149646 OMIM: 174763 HGNC: HGNC:9179 Ensembl: ENSG00000140521 |
| Other names | PEO, MDP1, SCAE, MIRAS, POLG1, POLGA, SANDO, MTDPS4A, MTDPS4B |
| Summary | Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.06 (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; |