| Variant ID | 1551 |
|---|---|
| Entrez Gene ID | 23334 |
| Gene | SZT2 (GeneCards) |
| Location | hg19 1:43915824-43915824
hg38 1:43450153-43450153 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000001.10:g.43915824_43915824 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_001012960.1 |
| mRNA length | 5451 |
| Reference length | 249250621 |
| Deleterious probability by DeFine | 0.9313 (Deleterious) |
|---|
| Entrez Gene ID | 23334 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SZT2 (GeneCards) |
| Number of variants in SZT2 in this database | 3 (view all the variants) |
| Full name | SZT2, KICSTOR complex subunit |
| Band | 1p34.2 |
| Other IDs | Vega: OTTHUMG00000007423 OMIM: 615463 HGNC: HGNC:29040 Ensembl: ENSG00000198198 |
| Other names | SZT2A, SZT2B, EIEE18, C1orf84, KIAA0467 |
| Summary | The protein encoded by this gene is expressed in the brain, predominantly in the parietal and frontal cortex as well as in dorsal root ganglia. It is localized to the peroxisome, and is implicated in resistance to oxidative stress. It likely functions by increasing superoxide dismutase (SOD) activity, but itself has no direct SOD activity. Studies in mice show that this gene confers low seizure threshold, and may also enhance epileptogenesis. [provided by RefSeq, Jun 2011] |
| Individual ID | 28867142.69 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male 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; |