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GCNT3

Synonyms
C2/4GnT, C24GNT, C2GNT2, C2GNTM, GNTM
External resources
Summary
This gene encodes a member of the N-acetylglucosaminyltransferase family. The encoded protein is a beta-6-N-acetylglucosamine-transferase that catalyzes the formation of core 2 and core 4 O-glycans on mucin-type glycoproteins.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
17
Likely pathogenic
3
VUS
1,327
Likely benign
101
Benign
0

Patient phenotypes

Proportions of phenotypes among 20 patients carring pathogenic or likely pathogenic variants on GCNT3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of the musculoskeletal system
45%
Abnormality of the eye
35%
Abnormality of the cardiovascular system
30%
Growth abnormality
30%
Abnormality of head or neck
15%
Abnormality of the endocrine system
15%
Abnormality of the integument
15%
Abnormality of the ear
10%
Abnormality of the genitourinary system
10%
Abnormality of the respiratory system
10%
Abnormal cellular phenotype
5%
Abnormality of limbs
5%
Abnormality of prenatal development or birth
5%
Abnormality of the digestive system
5%
Abnormality of the immune system
5%
Constitutional symptom
5%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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