| Variant ID | 18705 |
|---|---|
| Entrez Gene ID | 624 |
| Gene | BDKRB2 (GeneCards) |
| Location | hg19 14:96697315-96697315
hg38 14:96230978-96230978 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000014.8:g.96697315 A>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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1659 |
| CADD Raw score (version 1.3) | -0.210256 (Deleterious) |
| FATHMM raw prediction score | 0.13696 (Tolerated) |
| Deleterious probability by DeFine | 0.3919 (Neutral) |
| Entrez Gene ID | 624 (NCBI Gene) |
|---|---|
| Official Gene Symbol | BDKRB2 (GeneCards) |
| Number of variants in BDKRB2 in this database | 1 (view all the variants) |
| Full name | bradykinin receptor B2 |
| Band | 14q32.2 |
| Other IDs | Vega: OTTHUMG00000171408 OMIM: 113503 HGNC: HGNC:1030 Ensembl: ENSG00000168398 |
| Other names | B2R, BK2, BK-2, BKR2, BRB2 |
| Summary | This gene encodes a receptor for bradykinin. The 9 aa bradykinin peptide elicits many responses including vasodilation, edema, smooth muscle spasm and pain fiber stimulation. This receptor associates with G proteins that stimulate a phosphatidylinositol-calcium second messenger system. Alternate start codons result in two isoforms of the protein. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |