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CAMKK1

Synonyms
CAMKKA
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 protein plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade. Three transcript variants encoding two distinct isoforms have been identified 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
25
Likely pathogenic
0
VUS
2,620
Likely benign
1,072
Benign
0

Patient phenotypes

Proportions of phenotypes among 25 patients carring pathogenic or likely pathogenic variants on CAMKK1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
24%
Abnormality of head or neck
20%
Growth abnormality
20%
Abnormality of blood and blood-forming tissues
16%
Abnormality of the cardiovascular system
16%
Abnormality of the genitourinary system
16%
Abnormality of the musculoskeletal system
16%
Abnormality of limbs
8%
Abnormality of the endocrine system
8%
Neoplasm
8%
Abnormality of the digestive system
4%
Abnormality of the eye
4%
Abnormality of the integument
4%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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