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ABO

Synonyms
A3GALNT, A3GALT1, GTB, NAGAT
External resources
Summary
This gene encodes proteins related to the first discovered blood group system, ABO. Variation in the ABO gene (chromosome 9q34.2) is the basis of the ABO blood group, thus the presence of an allele determines the blood group in an individual. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene.

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
5
Likely pathogenic
152
VUS
575
Likely benign
2,167
Benign
0

Patient Phenotypes

Proportions of phenotypes among 157 patients carrying pathogenic or likely pathogenic variants on ABO gene are displayed below. The following symptoms were found in patients with a variant in ABO. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
41.4%
Abnormality of the nervous system
36.3%
Abnormality of the musculoskeletal system
28%
Abnormality of head or neck
21%
Abnormality of the integument
15.3%
Abnormality of the ear
14%
Abnormality of the cardiovascular system
9.6%
Abnormality of limbs
8.9%
Abnormality of metabolism homeostasis
8.9%
Abnormality of the digestive system
8.3%
Abnormality of the genitourinary system
7.6%
Abnormality of the immune system
7.6%
Growth abnormality
7.6%
Abnormality of blood and blood forming tissues
5.1%
Abnormality of the respiratory system
4.5%
Constitutional symptom
2.5%
Abnormal cellular phenotype
1.9%
Abnormality of the endocrine system
0.6%
Abnormality of the voice
0.6%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Neoplasm
0%

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