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GALNT14

Synonyms
GALNT15, GalNac-T10, GalNac-T14
External resources
Summary
This gene encodes a Golgi protein which is a member of the polypeptide N-acetylgalactosaminyltransferase (ppGalNAc-Ts) protein family. These enzymes catalyze the transfer of N-acetyl-D-galactosamine (GalNAc) to the hydroxyl groups on serines and threonines in target peptides. The encoded protein has been shown to transfer GalNAc to large proteins like mucins. Alterations in this gene may play a role in cancer progression and response to chemotherapy.

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
18
Likely pathogenic
1
VUS
5,227
Likely benign
1,293
Benign
0

Patient phenotypes

Proportions of phenotypes among 19 patients carrying pathogenic or likely pathogenic variants on GALNT14 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.1%
Abnormality of the cardiovascular system
21.1%
Abnormality of head or neck
5.3%
Abnormality of limbs
5.3%
Abnormality of the digestive system
5.3%
Abnormality of the ear
5.3%
Abnormality of the eye
5.3%
Abnormality of the genitourinary system
5.3%
Abnormality of the integument
5.3%
Abnormality of the musculoskeletal system
5.3%
Abnormality of the respiratory system
5.3%
Growth abnormality
5.3%
Neoplasm
5.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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