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MAVS

Synonyms
CARDIF, IPS-1, IPS1, VISA
External resources
Summary
This gene encodes an intermediary protein necessary in the virus-triggered beta interferon signaling pathways. It is required for activation of transcription factors which regulate expression of beta interferon and contributes to antiviral immunity. Multiple transcript variants encoding different isoforms 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
7
Likely pathogenic
0
VUS
1,453
Likely benign
150
Benign
0

Patient phenotypes

Proportions of phenotypes among 7 patients carring pathogenic or likely pathogenic variants on MAVS gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
57.1%
Abnormality of head or neck
28.6%
Abnormality of the digestive system
28.6%
Abnormality of the ear
28.6%
Abnormality of the eye
28.6%
Abnormality of the musculoskeletal system
28.6%
Abnormality of limbs
14.3%
Abnormality of the breast
14.3%
Abnormality of the cardiovascular system
14.3%
Abnormality of the endocrine system
14.3%
Abnormality of the genitourinary system
14.3%
Abnormality of the immune system
14.3%
Abnormality of the integument
14.3%
Abnormality of the respiratory system
14.3%
Growth abnormality
14.3%
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 thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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