Variant: rs121909650 

    present in Gene: FLT4
    present in Chromosome: 5
    Position on Chromosome: 180616464
    Alleles of this Variant: C/G

rs121909650 in FLT4 gene and Milroy Disease PMID 10856194 2000 Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase.

PMID 9817924 1998 Hereditary lymphedema: evidence for linkage and genetic heterogeneity.

PMID 15102829 2004 Activation of vascular endothelial growth factor receptor-3 and its downstream signaling promote cell survival under oxidative stress.

PMID 16924388 2006 Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3.

PMID 12881528 2003 Ligand-induced vascular endothelial growth factor receptor-3 (VEGFR-3) heterodimerization with VEGFR-2 in primary lymphatic endothelial cells regulates tyrosine phosphorylation sites.

PMID 26091405 2015 A Novel Missense Mutation in FLT4 Causes Autosomal Recessive Hereditary Lymphedema.

PMID 17458866 2007 A novel VEGFR3 mutation causes Milroy disease.

PMID 19289394 2009 Recessive primary congenital lymphoedema caused by a VEGFR3 mutation.

PMID 16965327 2006 Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations.

PMID 10835628 2000 Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema.