| Variant ID | 14786 |
|---|---|
| Entrez Gene ID | 4255 |
| Gene | MGMT (GeneCards) |
| Location | hg19 10:131530472-131530472
hg38 10:129732208-129732208 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.131530472 G>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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 0.606496 (Deleterious) |
| FATHMM raw prediction score | 0.15632 (Tolerated) |
| Deleterious probability by DeFine | 0.068 (Neutral) |
| Entrez Gene ID | 4255 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MGMT (GeneCards) |
| Number of variants in MGMT in this database | 5 (view all the variants) |
| Full name | O-6-methylguanine-DNA methyltransferase |
| Band | 10q26.3 |
| Other IDs | Vega: OTTHUMG00000019261 OMIM: 156569 HGNC: HGNC:7059 Ensembl: ENSG00000170430 |
| Other names | None |
| Summary | Alkylating agents are potent carcinogens that can result in cell death, mutation and cancer. The protein encoded by this gene is a DNA repair protein that is involved in cellular defense against mutagenesis and toxicity from alkylating agents. The protein catalyzes transfer of methyl groups from O(6)-alkylguanine and other methylated moieties of the DNA to its own molecule, which repairs the toxic lesions. Methylation of the genes promoter has been associated with several cancer types, including colorectal cancer, lung cancer, lymphoma and glioblastoma. [provided by RefSeq, Sep 2015] |
| Individual ID | 29217584.19 (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; |