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HGFAC

Synonyms
HGFA
External resources
Summary
This gene encodes a member of the peptidase S1 protein family. The encoded protein is first synthesized as an inactive single-chain precursor before being activated to a heterodimeric form by endoproteolytic processing. It acts as serine protease that converts hepatocyte growth factor to the active form. Alternative splicing results in multiple transcript variants.

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
4,111
Likely benign
9,089
Benign
0

Patient phenotypes

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

Phenotype class
Patients in 3billion (%)

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