| Variant ID | 29522 |
|---|---|
| Entrez Gene ID | 3791 |
| Gene | KDR (GeneCards) |
| Location | hg19 4:55953925-55953925
hg38 4:55087758-55087758 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000004.11:g.55953925 C>T (Genome Assembly: hg19) |
| 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 | 0.6354 |
| CADD Raw score (version 1.3) | 7.011117 (Deleterious) |
| FATHMM raw prediction score | 0.9362 (Tolerated) |
| SIFT score | 0.004 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.83 (Deleterious) |
| PROVEAN score | -3.54 (Deleterious) |
| MetaSVM score | 0.072 (Deleterious) |
| MetaLR score | 0.542 (Deleterious) |
| FitCons score | 0.646 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.61 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.332 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.623 |
| Deleterious probability by iFish2 | 0.9949 (Deleterious) |
| Deleterious probability by DeFine | 0.9513 (Deleterious) |
| 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 | 28714951.198 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |