| Variant ID | 6669 |
|---|---|
| Entrez Gene ID | 3791 |
| Gene | KDR (GeneCards) |
| Location | hg19 4:56116673-56116673
hg38 4:55250506-55250506 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000004.11:g.56116673 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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3129 |
| CADD Raw score (version 1.3) | 0.024506 (Deleterious) |
| FATHMM raw prediction score | 0.07356 (Tolerated) |
| Deleterious probability by DeFine | 0.1141 (Neutral) |
| Entrez Gene ID | 3791 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KDR (GeneCards) |
| Number of variants in KDR in this database | 4 (view all the variants) |
| Full name | kinase insert domain receptor |
| Band | 4q12 |
| Other IDs | Vega: OTTHUMG00000128734 OMIM: 191306 HGNC: HGNC:6307 Ensembl: ENSG00000128052 |
| Other names | FLK1, CD309, VEGFR, VEGFR2 |
| Summary | Vascular endothelial growth factor (VEGF) is a major growth factor for endothelial cells. This gene encodes one of the two receptors of the VEGF. This receptor, known as kinase insert domain receptor, is a type III receptor tyrosine kinase. It functions as the main mediator of VEGF-induced endothelial proliferation, survival, migration, tubular morphogenesis and sprouting. The signalling and trafficking of this receptor are regulated by multiple factors, including Rab GTPase, P2Y purine nucleotide receptor, integrin alphaVbeta3, T-cell protein tyrosine phosphatase, etc.. Mutations of this gene are implicated in infantile capillary hemangiomas. [provided by RefSeq, May 2009] |
| Individual ID | 29217584.12 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |