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APOBEC3F

Synonyms
A3F, ARP8, BK150C2.4.MRNA, KA6
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. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. Alternatively spliced transcript variants encoding different isoforms have been identified.

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
7
Likely pathogenic
0
VUS
1,424
Likely benign
1,014
Benign
0

Patient Phenotypes

Proportions of phenotypes among 7 patients carrying pathogenic or likely pathogenic variants on APOBEC3F gene are displayed below. The following symptoms were found in patients with a variant in APOBEC3F. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
57.1%
Abnormality of the nervous system
57.1%
Abnormality of head or neck
42.9%
Abnormality of the cardiovascular system
28.6%
Growth abnormality
28.6%
Abnormality of limbs
14.3%
Abnormality of metabolism homeostasis
14.3%
Abnormality of prenatal development or birth
14.3%
Abnormality of the digestive system
14.3%
Abnormality of the ear
14.3%
Abnormality of the endocrine system
14.3%
Abnormality of the eye
14.3%
Abnormality of the genitourinary system
14.3%
Abnormality of the respiratory system
14.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of the breast
0%
Abnormality of the immune system
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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