rs121909652

This is a variant in the FLT4 gene that changes a proline to an leucine.

ClinVar annotation

Pathogenic☆☆☆
2 submitters2 publications

Hereditary lymphedema type I (LMPHM1)

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About FLT4

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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