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APOBEC3H

Synonyms
A3H, ARP-10, ARP10
External resources
Summary
This gene encodes a member of the apolipoprotein B mRNA-editing enzyme catalytic polypeptide 3 family of proteins. The encoded protein is a cytidine deaminase that has antiretroviral activity by generating lethal hypermutations in viral genomes. Polymorphisms and alternative splicing in this gene influence its antiretroviral activity and are associated with increased resistence to human immunodeficiency virus type 1 infection in certain populations. Alternative splicing results in multiple transcript variants.

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
14
Likely pathogenic
0
VUS
2,611
Likely benign
23
Benign
0

Patient phenotypes

Proportions of phenotypes among 14 patients carring pathogenic or likely pathogenic variants on APOBEC3H gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
35.7%
Abnormality of the nervous system
35.7%
Abnormality of head or neck
21.4%
Abnormality of the cardiovascular system
21.4%
Abnormality of the musculoskeletal system
14.3%
Abnormality of the respiratory system
14.3%
Growth abnormality
14.3%
Abnormality of the endocrine system
7.1%
Abnormality of the genitourinary system
7.1%
Abnormality of the immune system
7.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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