FLT4 Chromosome 5
Fms related receptor tyrosine kinase 4
Upload your DNA to see your personal genotypes for variants in FLT4.
What This Gene Does
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]
Gene Info
Gene Group
"Receptor tyrosine kinases|I-set domain containing"
Locus Type
gene with protein product
Location
5q35.3
Ensembl
ENSG00000037280
Associated Conditions (10)
Regorafenib response
FLT4-related disorder
Inborn genetic diseases
Hereditary lymphedema type I
Lymphedema
Capillary infantile hemangioma
Congenital heart defects
multiple types
7
Non-immune hydrops fetalis
Key Variants
RS1554115894
drug response
Regorafenib response, Regorafenib response
Drug Response
RS143163262
Conflicting classifications of pathogenicity
FLT4-related disorder, Inborn genetic diseases, FLT4-related disorder
Health Risk
RS143813005
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146167161
Conflicting classifications of pathogenicity
Hereditary lymphedema type I, Hereditary lymphedema type I
Health Risk
RS149033942
Conflicting classifications of pathogenicity
FLT4-related disorder, Hereditary lymphedema type I, FLT4-related disorder
Health Risk
RS200763913
Conflicting classifications of pathogenicity
Health Risk
RS566339142
Conflicting classifications of pathogenicity
Health Risk
RS767952525
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS773696166
Conflicting classifications of pathogenicity
Lymphedema, Lymphedema
Health Risk
RS121909652
Likely pathogenic
Hereditary lymphedema type I, Hereditary lymphedema type I
Health Risk
RS1302178938
Likely pathogenic
Health Risk
RS1554109707
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (48)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1554115894 | Drug Response | drug response | Regorafenib response, Regorafenib response |
| RS143163262 | Health Risk | Conflicting classifications of pathogenicity | FLT4-related disorder, Inborn genetic diseases, FLT4-related disorder |
| RS143813005 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS146167161 | Health Risk | Conflicting classifications of pathogenicity | Hereditary lymphedema type I, Hereditary lymphedema type I |
| RS149033942 | Health Risk | Conflicting classifications of pathogenicity | FLT4-related disorder, Hereditary lymphedema type I, FLT4-related disorder |
| RS200763913 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS566339142 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS767952525 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS773696166 | Health Risk | Conflicting classifications of pathogenicity | Lymphedema, Lymphedema |
| RS121909652 | Health Risk | Likely pathogenic | Hereditary lymphedema type I, Hereditary lymphedema type I |
| RS1302178938 | Health Risk | Likely pathogenic | — |
| RS1554109707 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1761973773 | Health Risk | Likely pathogenic | Hereditary lymphedema type I, Hereditary lymphedema type I |
| RS1762335528 | Health Risk | Likely pathogenic | Hereditary lymphedema type I, Capillary infantile hemangioma, Congenital heart defects |
| RS1764039505 | Health Risk | Likely pathogenic | Congenital heart defects, multiple types, 7 |
| RS2127781697 | Health Risk | Likely pathogenic | — |
| RS2127787560 | Health Risk | Likely pathogenic | FLT4-related disorder, FLT4-related disorder |
| RS2127802292 | Health Risk | Likely pathogenic | — |
| RS2480849793 | Health Risk | Likely pathogenic | — |
| RS2480864921 | Health Risk | Likely pathogenic | — |
| RS2480865039 | Health Risk | Likely pathogenic | — |
| RS2480880177 | Health Risk | Likely pathogenic | Congenital heart defects, multiple types, 7 |
| RS2480886920 | Health Risk | Likely pathogenic | Hereditary lymphedema type I, Hereditary lymphedema type I |
| RS2480904044 | Health Risk | Likely pathogenic | — |
| RS2480922403 | Health Risk | Likely pathogenic | FLT4-related disorder, FLT4-related disorder |
| RS2480933426 | Health Risk | Likely pathogenic | FLT4-related disorder, FLT4-related disorder |
| RS2480983963 | Health Risk | Likely pathogenic | Congenital heart defects, multiple types, 7 |
| RS121909651 | Health Risk | Pathogenic | Hereditary lymphedema type I, Hereditary lymphedema type I |
| RS121909653 | Health Risk | Pathogenic | Hereditary lymphedema type I, Hereditary lymphedema type I |
| RS121909654 | Health Risk | Pathogenic | Hereditary lymphedema type I, Hereditary lymphedema type I |
| RS121909656 | Health Risk | Pathogenic | Hereditary lymphedema type I, Hereditary lymphedema type I |
| RS1415338572 | Health Risk | Pathogenic | Congenital heart defects, multiple types, 7 |
| RS1422886839 | Health Risk | Pathogenic | Congenital heart defects, multiple types, 7 |
| RS1581616817 | Health Risk | Pathogenic | Congenital heart defects, multiple types, 7 |
| RS1581655293 | Health Risk | Pathogenic | Congenital heart defects, multiple types, 7 |
| RS2127839096 | Health Risk | Pathogenic | Congenital heart defects, multiple types, 7 |
| RS2480842959 | Health Risk | Pathogenic | Hereditary lymphedema type I, Hereditary lymphedema type I |
| RS2480865554 | Health Risk | Pathogenic | Hereditary lymphedema type I, Hereditary lymphedema type I |
| RS2480869226 | Health Risk | Pathogenic | FLT4-related disorder, FLT4-related disorder |
| RS2480883778 | Health Risk | Pathogenic | FLT4-related disorder, FLT4-related disorder |
| RS2480884226 | Health Risk | Pathogenic | Hereditary lymphedema type I, Hereditary lymphedema type I |
| RS267606818 | Health Risk | Pathogenic | Hereditary lymphedema type I, Hereditary lymphedema type I |
| RS755445139 | Health Risk | Pathogenic | Congenital heart defects, multiple types, 7 |
| RS121909650 | Health Risk | Pathogenic/Likely pathogenic | Hereditary lymphedema type I, FLT4-related disorder, Hereditary lymphedema type I |
| RS121909655 | Health Risk | Pathogenic/Likely pathogenic | Hereditary lymphedema type I, FLT4-related disorder, Hereditary lymphedema type I |
| RS1451816005 | Health Risk | Pathogenic/Likely pathogenic | Hereditary lymphedema type I, FLT4-related disorder, Non-immune hydrops fetalis |
| RS146006663 | Health Risk | Pathogenic/Likely pathogenic | Congenital heart defects, multiple types, 7 |
| RS587776833 | Health Risk | Pathogenic/Likely pathogenic | Hereditary lymphedema type I, Hereditary lymphedema type I |