| Variant ID | 12927 |
|---|---|
| Entrez Gene ID | 23245 |
| Gene | ASTN2 (GeneCards) |
| Location | hg19 9:119401143-119401143
hg38 9:116638864-116638864 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000009.11:g.119401143 T>C (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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4544 |
| CADD Raw score (version 1.3) | -0.388035 (Deleterious) |
| FATHMM raw prediction score | 0.11065 (Tolerated) |
| Deleterious probability by DeFine | 0.3465 (Neutral) |
| Entrez Gene ID | 23245 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ASTN2 (GeneCards) |
| Number of variants in ASTN2 in this database | 16 (view all the variants) |
| Full name | astrotactin 2 |
| Band | 9q33.1 |
| Other IDs | Vega: OTTHUMG00000021013 OMIM: 612856 HGNC: HGNC:17021 Ensembl: ENSG00000148219 |
| Other names | bA67K19.1 |
| Summary | This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia. Multiple transcript variants encoding different proteins have been found for this locus. [provided by RefSeq, May 2010] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |