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CALY

Synonyms
DRD1IP, NSG3
External resources
Summary
The protein encoded by this gene is a type II single transmembrane protein. It is required for maximal stimulated calcium release after stimulation of purinergic or muscarinic but not beta-adrenergic receptors. The encoded protein interacts with D1 dopamine receptor and may interact with other DA receptor subtypes and/or GPCRs.

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
7
Likely pathogenic
0
VUS
484
Likely benign
0
Benign
0

Patient phenotypes

Proportions of phenotypes among 7 patients carring pathogenic or likely pathogenic variants on CALY gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
57.1%
Abnormality of the nervous system
57.1%
Abnormality of the ear
42.9%
Abnormality of the musculoskeletal system
42.9%
Abnormality of limbs
28.6%
Abnormality of the eye
28.6%
Abnormality of the respiratory system
28.6%
Growth abnormality
28.6%
Abnormal cellular phenotype
14.3%
Abnormality of blood and blood-forming tissues
14.3%
Abnormality of the breast
14.3%
Abnormality of the cardiovascular system
14.3%
Abnormality of the digestive system
14.3%
Abnormality of the endocrine system
14.3%
Abnormality of the genitourinary system
14.3%
Abnormality of the immune system
14.3%
Abnormality of the integument
14.3%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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