| Variant ID | 14713 |
|---|---|
| Entrez Gene ID | 105 |
| Gene | ADARB2 (GeneCards) |
| Location | hg19 10:1975847-1975847
hg38 10:1933653-1933653 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.1975847 T>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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.247 |
| CADD Raw score (version 1.3) | 0.400857 (Deleterious) |
| FATHMM raw prediction score | 0.22142 (Tolerated) |
| Deleterious probability by DeFine | 0.6012 (Deleterious) |
| Entrez Gene ID | 105 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ADARB2 (GeneCards) |
| Number of variants in ADARB2 in this database | 19 (view all the variants) |
| Full name | adenosine deaminase, RNA specific B2 (inactive) |
| Band | 10p15.3 |
| Other IDs | Vega: OTTHUMG00000017543 OMIM: 602065 HGNC: HGNC:227 Ensembl: ENSG00000185736 |
| Other names | RED2, ADAR3 |
| Summary | This gene encodes a member of the double-stranded RNA adenosine deaminase family of RNA-editing enzymes and may play a regulatory role in RNA editing. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.16 (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; |