| Variant ID | 29308 |
|---|---|
| Entrez Gene ID | 2946 |
| Gene | GSTM2 (GeneCards) |
| Location | hg19 1:110210239-110210239
hg38 1:109667617-109667617 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000001.10:g.110210239 G>A (Genome Assembly: GRCh37) |
| Exon or Intron | Intron |
|---|---|
| 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2496 |
| CADD Raw score (version 1.3) | 0.220905 (Deleterious) |
| FATHMM raw prediction score | 0.11109 (Tolerated) |
| Deleterious probability by DeFine | 0.2325 (Neutral) |
| Entrez Gene ID | 2946 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GSTM2 (GeneCards) |
| Number of variants in GSTM2 in this database | 1 (view all the variants) |
| Full name | glutathione S-transferase mu 2 |
| Band | 1p13.3 |
| Other IDs | Vega: OTTHUMG00000011638 OMIM: 138380 HGNC: HGNC:4634 Ensembl: ENSG00000213366 |
| Other names | GST4, GSTM, GTHMUS, GSTM2-2 |
| Summary | Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. [provided by RefSeq, Jul 2008] |
| Individual ID | 28503910.185 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |