| Variant ID | 2767 |
|---|---|
| Entrez Gene ID | 23334 |
| Gene | SZT2 (GeneCards) |
| Location | hg19 1:43960604-43960604
hg38 1:43494933-43494933 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.43960604 A>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 | -0.4168 |
| CADD Raw score (version 1.3) | -0.389428 (Deleterious) |
| FATHMM raw prediction score | 0.06924 (Tolerated) |
| Deleterious probability by DeFine | 0.1618 (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 | 29217584.22 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |