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AIF1

Synonyms
AIF-1, IBA1, IRT-1, IRT1
External resources
Summary
This gene encodes a protein that binds actin and calcium. This gene is induced by cytokines and interferon and may promote macrophage activation and growth of vascular smooth muscle cells and T-lymphocytes. Polymorphisms in this gene may be associated with systemic sclerosis. Alternative splicing results in multiple transcript variants, but the full-length and coding nature of some of these variants is not certain.

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
6
Likely pathogenic
0
VUS
269
Likely benign
292
Benign
0

Patient phenotypes

Proportions of phenotypes among 6 patients carring pathogenic or likely pathogenic variants on AIF1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
66.7%
Abnormality of the musculoskeletal system
50%
Abnormality of head or neck
33.3%
Abnormality of limbs
33.3%
Abnormality of the nervous system
33.3%
Abnormality of the ear
16.7%
Abnormality of the endocrine system
16.7%
Abnormality of the genitourinary system
16.7%
Abnormality of the integument
16.7%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the digestive 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%
Growth abnormality
0%
Neoplasm
0%

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