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MIA3

Synonyms
ARNT, D320, ODCD2, TANGO, TANGO1, UNQ6077
External resources
Summary
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Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
18
Likely pathogenic
0
VUS
6,350
Likely benign
1,481
Benign
106

Patient phenotypes

Proportions of phenotypes among 18 patients carrying pathogenic or likely pathogenic variants on MIA3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of the musculoskeletal system
27.8%
Abnormality of the genitourinary system
16.7%
Abnormality of head or neck
11.1%
Abnormality of the digestive system
11.1%
Abnormality of the eye
11.1%
Growth abnormality
11.1%
Abnormality of blood and blood-forming tissues
5.6%
Abnormality of prenatal development or birth
5.6%
Abnormality of the cardiovascular system
5.6%
Abnormality of the endocrine system
5.6%
Constitutional symptom
5.6%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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