| Variant ID | 21470 |
|---|---|
| Entrez Gene ID | 92667 |
| Gene | MGME1 (GeneCards) |
| Location | hg19 20:17965918-17965918
hg38 20:17985275-17985275 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000020.10:g.17965918 T>A (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 | -0.193 |
| CADD Raw score (version 1.3) | 0.725963 (Deleterious) |
| FATHMM raw prediction score | 0.13955 (Tolerated) |
| Deleterious probability by DeFine | 0.0822 (Neutral) |
| Entrez Gene ID | 92667 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MGME1 (GeneCards) |
| Number of variants in MGME1 in this database | 2 (view all the variants) |
| Full name | mitochondrial genome maintenance exonuclease 1 |
| Band | 20p11.23 |
| Other IDs | Vega: OTTHUMG00000031955 OMIM: 615076 HGNC: HGNC:16205 Ensembl: ENSG00000125871 |
| Other names | DDK1, MTDPS11, C20orf72, bA504H3.4 |
| Summary | The protein encoded by this gene is a nuclear-encoded mitochondrial protein necessary for the maintenance of mitochondrial genome synthesis. The encoded protein is a RecB-type exonuclease and primarily cleaves single-stranded DNA. Defects in this gene have been associated with mitochondrial DNA depletion syndrome-11. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015] |
| Individual ID | 29217584.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |