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GLRA3

Synonyms
-
External resources
Summary
This gene encodes a member of the ligand-gated ion channel protein family. The encoded protein is a member of the glycine receptor subfamily. Alternative splicing results in multiple transcript variants.

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
4
Likely pathogenic
0
VUS
2,695
Likely benign
1,017
Benign
0

Patient phenotypes

Proportions of phenotypes among 4 patients carring pathogenic or likely pathogenic variants on GLRA3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
25%
Abnormality of the cardiovascular system
25%
Abnormality of the ear
25%
Abnormality of the eye
25%
Abnormality of the integument
25%
Abnormality of the musculoskeletal system
25%
Abnormality of the nervous system
25%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
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 digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
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%
Growth abnormality
0%
Neoplasm
0%

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