FLT4 fms related tyrosine kinase 4

Gene info



Previous symbol


External ID

HGNC: 3767
Entrez Gene: 2324
Ensembl: ENSG00000037280
UCSC: uc003mlz.4
OMIM: 136352
UniProtKB: P35916

Disease info

CHD Phenotype

  • Tetralogy of fallot

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: Conditional knockout mice have cardiovascular defects.


Variant info


Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for FLT4: BED file

Genome browser powered by igv.js

Selected References

  1. Jin, S. C., Homsy, J., Zaidi, S., Lu, Q., Morton, S., DePalma, S. R., Zeng, X., Qi, H., Chang, W., Sierant, M. C., Hung, W.-C., Haider, S., Zhang, J., Knight, J., Bjornson, R. D., Castaldi, C., Tikhonoa, I. R., Bilguvar, K., Mane, S. M., … Brueckner, M. (2017). Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nature Genetics, 49(11), 1593–1601. https://doi.org/10.1038/ng.3970 DOI:10.1038/ng.3970 PMID:28991257
  2. Szot, J. O., Cuny, H., Blue, G. M., Humphreys, D. T., Ip, E., Harrison, K., Sholler, G. F., Giannoulatou, E., Leo, P., Duncan, E. L., Sparrow, D. B., Ho, J. W. K., Graham, R. M., Pachter, N., Chapman, G., Winlaw, D. S., & Dunwoodie, S. L. (2018). A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. Circulation: Genomic and Precision Medicine, 11(3). https://doi.org/10.1161/circgen.117.001978 DOI:10.1161/circgen.117.001978 PMID:29555671