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CAMTA2

Synonyms
-
External resources
Summary
The protein encoded by this gene is a member of the calmodulin-binding transcription activator protein family. Members of this family share a common domain structure that consists of a transcription activation domain, a DNA-binding domain, and a calmodulin-binding domain. The encoded protein may be a transcriptional coactivator of genes involved in cardiac growth. Alternate splicing results in multiple transcript variants.

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
5
Likely pathogenic
1
VUS
12,297
Likely benign
1,533
Benign
0

Patient phenotypes

Proportions of phenotypes among 6 patients carrying pathogenic or likely pathogenic variants on CAMTA2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Growth abnormality
66.7%
Abnormality of the nervous system
50%
Abnormality of the cardiovascular system
33.3%
Abnormality of the musculoskeletal system
33.3%
Abnormality of blood and blood-forming tissues
16.7%
Abnormality of head or neck
16.7%
Abnormality of the digestive system
16.7%
Abnormality of the ear
16.7%
Abnormality of the endocrine system
16.7%
Abnormality of the eye
16.7%
Abnormality of the genitourinary system
16.7%
Abnormality of the immune system
16.7%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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