| Variant ID | 4293 |
|---|---|
| Entrez Gene ID | 54465 |
| Gene | ETAA1 (GeneCards) |
| Location | hg19 2:67934586-67934586
hg38 2:67707454-67707454 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.67934586 C>A (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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0567 |
| CADD Raw score (version 1.3) | 0.37621 (Deleterious) |
| FATHMM raw prediction score | 0.07415 (Tolerated) |
| Deleterious probability by DeFine | 0.5549 (Deleterious) |
| Entrez Gene ID | 54465 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ETAA1 (GeneCards) |
| Number of variants in ETAA1 in this database | 13 (view all the variants) |
| Full name | ETAA1, ATR kinase activator |
| Band | 2p14 |
| Other IDs | Vega: OTTHUMG00000129545 OMIM: 613196 HGNC: HGNC:24648 Ensembl: ENSG00000143971 |
| Other names | ETAA16 |
| Summary | None |
| 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; |