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APOBEC3G

Synonyms
A3G, ARCD, ARP-9, ARP9, CEM-15, CEM15, MDS019, bK150C2.7, dJ494G10.1
External resources
Summary
This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. The protein encoded by this gene catalyzes site-specific deamination of both RNA and single-stranded DNA. The encoded protein has been found to be a specific inhibitor of human immunodeficiency virus-1 (HIV-1) infectivity.

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
38
Likely pathogenic
0
VUS
7,250
Likely benign
1,054
Benign
0

Patient Phenotypes

Proportions of phenotypes among 38 patients carrying pathogenic or likely pathogenic variants on APOBEC3G gene are displayed below. The following symptoms were found in patients with a variant in APOBEC3G. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.1%
Abnormality of head or neck
28.9%
Abnormality of the cardiovascular system
21.1%
Abnormality of the ear
21.1%
Abnormality of the eye
21.1%
Abnormality of the musculoskeletal system
18.4%
Abnormality of the genitourinary system
13.2%
Growth abnormality
10.5%
Abnormality of limbs
5.3%
Abnormality of the endocrine system
5.3%
Abnormality of the immune system
5.3%
Abnormality of the respiratory system
5.3%
Abnormality of metabolism homeostasis
2.6%
Abnormality of the digestive system
2.6%
Abnormality of the integument
2.6%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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