| Variant ID | 1562 |
|---|---|
| Entrez Gene ID | 116447 |
| Gene | TOP1MT (GeneCards) |
| Location | hg19 8:144397947-144397947
hg38 8:143315777-143315777 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000008.10:g.144397947_144397947 del (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NM_052963.2 |
| mRNA length | 1953 |
| Reference length | 146364022 |
| Deleterious probability by DeFine | 0.9146 (Deleterious) |
|---|
| 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 | 28867142.13 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |