| Variant ID | 26783 |
|---|---|
| Entrez Gene ID | 116447 |
| Gene | TOP1MT (GeneCards) |
| Location | hg19 8:144436448-144436448
hg38 8:143354278-143354278 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000008.10:g.144436448 G>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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3835 |
| CADD Raw score (version 1.3) | -0.310035 (Deleterious) |
| FATHMM raw prediction score | 0.05467 (Tolerated) |
| Deleterious probability by DeFine | 0.3489 (Neutral) |
| Entrez Gene ID | 116447 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TOP1MT (GeneCards) |
| Number of variants in TOP1MT in this database | 2 (view all the variants) |
| Full name | DNA topoisomerase I mitochondrial |
| Band | 8q24.3 |
| Other IDs | Vega: OTTHUMG00000164979 OMIM: 606387 HGNC: HGNC:29787 Ensembl: ENSG00000184428 |
| Other names | None |
| Summary | This gene encodes a mitochondrial DNA topoisomerase that plays a role in the modification of DNA topology. The encoded protein is a type IB topoisomerase and catalyzes the transient breaking and rejoining of DNA to relieve tension and DNA supercoiling generated in the mitochondrial genome during replication and transcription. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] |
| Individual ID | 29217587.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |