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CAMK4

Synonyms
CaMK IV, CaMK-GR, CaMKIV, caMK
External resources
Summary
The product of this gene belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This enzyme is a multifunctional serine/threonine protein kinase with limited tissue distribution, that has been implicated in transcriptional regulation in lymphocytes, neurons and male germ cells.

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
4
Likely pathogenic
0
VUS
630
Likely benign
7,000
Benign
0

Patient phenotypes

Proportions of phenotypes among 4 patients carrying pathogenic or likely pathogenic variants on CAMK4 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
75%
Abnormality of the eye
75%
Abnormality of the integument
75%
Abnormality of the cardiovascular system
50%
Abnormality of the musculoskeletal system
50%
Abnormality of the nervous system
50%
Abnormality of blood and blood-forming tissues
25%
Abnormality of limbs
25%
Abnormality of prenatal development or birth
25%
Abnormality of the digestive system
25%
Abnormality of the ear
25%
Abnormality of the respiratory system
25%
Neoplasm
25%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%

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