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A4GNT

Synonyms
alpha4GnT
External resources
Summary
This gene encodes a protein from the glycosyltransferase 32 family. The enzyme catalyzes the transfer of N-acetylglucosamine (GlcNAc) to core 2 branched O-glycans. It forms a unique glycan, GlcNAcalpha1-->4Galbeta-->R and is largely associated with the Golgi apparatus membrane.

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
1
Likely pathogenic
7
VUS
1,172
Likely benign
207
Benign
0

Patient Phenotypes

Proportions of phenotypes among 8 patients carrying pathogenic or likely pathogenic variants on A4GNT gene are displayed below. The following symptoms were found in patients with a variant in A4GNT. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
37.5%
Abnormality of the eye
37.5%
Abnormality of the musculoskeletal system
37.5%
Abnormality of limbs
25%
Abnormality of the cardiovascular system
25%
Abnormality of the digestive system
25%
Abnormality of the ear
25%
Abnormality of the genitourinary system
25%
Abnormality of the nervous system
25%
Growth abnormality
25%
Abnormality of blood and blood forming tissues
12.5%
Abnormality of the integument
12.5%
Abnormal cellular phenotype
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 respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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