AGGF1 Chromosome 5

Angiogenic factor with G-patch and FHA domains 1

1 variant 1 Health Risk

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What This Gene Does

This gene encodes an angiogenic factor that promotes proliferation of endothelial cells. Mutations in this gene are associated with a susceptibility to Klippel-Trenaunay syndrome. Pseudogenes of this gene are found on chromosomes 3, 4, 10 and 16.[provided by RefSeq, Sep 2010]

Gene Info

Gene Group

G-patch domain containing

Locus Type

gene with protein product

Location

5q13.3

Ensembl

ENSG00000164252

Associated Conditions (1)

Non-syndromic syndactyly

Key Variants

RS781603465

Likely pathogenic

Non-syndromic syndactyly, Non-syndromic syndactyly

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS781603465	Health Risk	Likely pathogenic	Non-syndromic syndactyly, Non-syndromic syndactyly