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GALNT12

Synonyms
CRCS1, GalNAc-T12
External resources
Summary
This gene encodes a member of a family of UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases, which catalyze the transfer of N-acetylgalactosamine (GalNAc) from UDP-GalNAc to a serine or threonine residue on a polypeptide acceptor in the initial step of O-linked protein glycosylation. Mutations in this gene are associated with an increased susceptibility to colorectal cancer.

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
752
Likely benign
6,333
Benign
1

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on GALNT12 gene.

Phenotype class
Patients in 3billion (%)

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