| Variant ID | 27082 |
|---|---|
| Entrez Gene ID | 105 |
| Gene | ADARB2 (GeneCards) |
| Location | hg19 10:1755284-1755284
hg38 10:1713090-1713090 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000010.10:g.1755284 A>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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0128 |
| CADD Raw score (version 1.3) | 0.496308 (Deleterious) |
| FATHMM raw prediction score | 0.10502 (Tolerated) |
| Deleterious probability by DeFine | 0.4872 (Neutral) |
| 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 | 29217587.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |