| Variant ID | 22468 |
|---|---|
| Entrez Gene ID | 23334 |
| Gene | SZT2 (GeneCards) |
| Location | hg19 1:43940680-43940680
hg38 1:43475009-43475009 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000001.10:g.43940680 C>G (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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2312 |
| CADD Raw score (version 1.3) | -0.036905 (Deleterious) |
| FATHMM raw prediction score | 0.08021 (Tolerated) |
| Deleterious probability by DeFine | 0.0802 (Neutral) |
| 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 | 29217587.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217587 |
|---|---|
| Title | Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Asymptomatic |
| Number of cases | cases of unknown sex: 3; |