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ARMC3

Synonyms
CT81, KU-CT-1
External resources
Summary
Armadillo/beta-catenin (CTNNB1; MIM 116806)-like (ARM) domains are imperfect 45-amino acid repeats involved in protein-protein interactions. ARM domain-containing proteins, such as ARMC3, function in signal transduction, development, cell adhesion and mobility, and tumor initiation and metastasis (Li et al., 2006

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
27
Likely pathogenic
0
VUS
2,310
Likely benign
48
Benign
0

Patient Phenotypes

Proportions of phenotypes among 27 patients carrying pathogenic or likely pathogenic variants on ARMC3 gene are displayed below. The following symptoms were found in patients with a variant in ARMC3. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
55.6%
Abnormality of the musculoskeletal system
37%
Abnormality of the ear
29.6%
Growth abnormality
29.6%
Abnormality of head or neck
25.9%
Abnormality of limbs
22.2%
Abnormality of the cardiovascular system
22.2%
Abnormality of the eye
22.2%
Abnormality of the digestive system
14.8%
Abnormality of the genitourinary system
11.1%
Abnormality of the integument
11.1%
Abnormality of metabolism homeostasis
7.4%
Abnormality of the respiratory system
7.4%
Abnormality of the immune system
3.7%
Abnormality of the voice
3.7%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%
Neoplasm
0%

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