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MAGI1

Synonyms
AIP-3, AIP3, BAIAP1, BAP-1, BAP1, MAGI-1, MAGI-1b, Magi1d, TNRC19, WWP3
External resources
Summary
The protein encoded by this gene is a member of the membrane-associated guanylate kinase homologue (MAGUK) family. MAGUK proteins participate in the assembly of multiprotein complexes on the inner surface of the plasma membrane at regions of cell-cell contact. The product of this gene may play a role as scaffolding protein at cell-cell junctions. 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
274
Likely pathogenic
0
VUS
17,553
Likely benign
1,876
Benign
0

Patient Phenotypes

Proportions of phenotypes among 271 patients carrying pathogenic or likely pathogenic variants on MAGI1 gene are displayed below. The following symptoms were found in patients with a variant in MAGI1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
36.5%
Abnormality of the musculoskeletal system
27.7%
Abnormality of the eye
26.9%
Abnormality of the cardiovascular system
21.4%
Abnormality of head or neck
21%
Abnormality of the ear
15.9%
Abnormality of the integument
12.5%
Abnormality of metabolism homeostasis
11.4%
Abnormality of the genitourinary system
10.3%
Growth abnormality
10.3%
Abnormality of limbs
9.6%
Abnormality of the immune system
9.2%
Abnormality of the digestive system
8.9%
Abnormality of blood and blood forming tissues
4.4%
Abnormality of the endocrine system
4.1%
Abnormality of the respiratory system
4.1%
Abnormality of prenatal development or birth
3.7%
Neoplasm
2.2%
Constitutional symptom
1.5%
Abnormality of the breast
0.7%
Abnormal cellular phenotype
0.4%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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