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GALNT10

Synonyms
GALNACT10, PPGALNACT10, PPGANTASE10
External resources
Summary
This gene encodes a member of the GalNAc polypeptide N-acetylgalactosaminyltransferases. These enzymes catalyze the first step in the synthesis of mucin-type oligosaccharides. These proteins transfer GalNAc from UDP-GalNAc to either serine or threonine residues of polypeptide acceptors. The protein encoded by this locus may have increased catalytic activity toward glycosylated peptides compared to activity toward non-glycosylated peptides.

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
7,132
Likely benign
9,678
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on GALNT10 gene.

Phenotype class
Patients in 3billion (%)

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