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AGGF1

Synonyms
GPATC7, GPATCH7, HSU84971, HUS84971, VG5Q
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
716
Likely benign
1,904
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on AGGF1 gene.

Phenotype class
Patients in 3billion (%)

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