| Variant ID | 11364 |
|---|---|
| Entrez Gene ID | 26053 |
| Gene | AUTS2 (GeneCards) |
| Location | hg19 7:69578755-69578755
hg38 7:70113769-70113769 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.69578755 C>T (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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.7273 |
| CADD Raw score (version 1.3) | 0.881255 (Deleterious) |
| FATHMM raw prediction score | 0.35607 (Tolerated) |
| Deleterious probability by DeFine | 0.765 (Deleterious) |
| Entrez Gene ID | 26053 (NCBI Gene) |
|---|---|
| Official Gene Symbol | AUTS2 (GeneCards) |
| Number of variants in AUTS2 in this database | 13 (view all the variants) |
| Full name | AUTS2, activator of transcription and developmental regulator |
| Band | 7q11.22 |
| Other IDs | Vega: OTTHUMG00000023865 OMIM: 607270 HGNC: HGNC:14262 Ensembl: ENSG00000158321 |
| Other names | MRD26, FBRSL2 |
| Summary | This gene has been implicated in neurodevelopment and as a candidate gene for numerous neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mutations in this gene have also been associated with non-neurological disorders, such as acute lymphoblastic leukemia, aging of the skin, early-onset androgenetic alopecia, and certain cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2014] |
| Individual ID | 29217584.17 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |