| Variant ID | 8722 |
|---|---|
| Entrez Gene ID | 2324 |
| Gene | FLT4 (GeneCards) |
| Location | hg19 5:180038576-180038576
hg38 5:180611576-180611576 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.180038576 C>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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2399 |
| CADD Raw score (version 1.3) | 0.055547 (Deleterious) |
| FATHMM raw prediction score | 0.07522 (Tolerated) |
| Deleterious probability by DeFine | 0.4284 (Neutral) |
| Entrez Gene ID | 2324 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FLT4 (GeneCards) |
| Number of variants in FLT4 in this database | 2 (view all the variants) |
| Full name | fms related tyrosine kinase 4 |
| Band | 5q35.3 |
| Other IDs | Vega: OTTHUMG00000130931 OMIM: 136352 HGNC: HGNC:3767 Ensembl: ENSG00000037280 |
| Other names | PCL, FLT-4, FLT41, LMPH1A, VEGFR3, VEGFR-3 |
| Summary | This gene encodes a tyrosine kinase receptor for vascular endothelial growth factors C and D. The protein is thought to be involved in lymphangiogenesis and maintenance of the lymphatic endothelium. Mutations in this gene cause hereditary lymphedema type IA. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |