| Variant ID | 26137 |
|---|---|
| Entrez Gene ID | 577 |
| Gene | ADGRB3 (GeneCards) |
| Location | hg19 6:70012563-70012563
hg38 6:69302671-69302671 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000006.11:g.70012563 G>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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3302 |
| CADD Raw score (version 1.3) | -0.293556 (Deleterious) |
| FATHMM raw prediction score | 0.07455 (Tolerated) |
| Deleterious probability by DeFine | 0.0495 (Neutral) |
| Entrez Gene ID | 577 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ADGRB3 (GeneCards) |
| Number of variants in ADGRB3 in this database | 111 (view all the variants) |
| Full name | adhesion G protein-coupled receptor B3 |
| Band | 6q12-q13 |
| Other IDs | Vega: OTTHUMG00000014982 OMIM: 602684 HGNC: HGNC:945 Ensembl: ENSG00000135298 |
| Other names | BAI3 |
| Summary | This p53-target gene encodes a brain-specific angiogenesis inhibitor, a seven-span transmembrane protein, and is thought to be a member of the secretin receptor family. Brain-specific angiogenesis proteins BAI2 and BAI3 are similar to BAI1 in structure, have similar tissue specificities, and may also play a role in angiogenesis. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |