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GJC3

Synonyms
CX29, CX30.2, CX31.3, GJE1
External resources
Summary
This gene encodes a gap junction protein. The encoded protein, also known as a connexin, plays a role in formation of gap junctions, which provide direct connections between neighboring cells. Mutations in this gene have been reported to be associated with nonsyndromic hearing loss.

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
30
Likely pathogenic
0
VUS
947
Likely benign
200
Benign
0

Patient phenotypes

Proportions of phenotypes among 30 patients carring pathogenic or likely pathogenic variants on GJC3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
26.7%
Abnormality of the nervous system
26.7%
Abnormality of the cardiovascular system
16.7%
Abnormality of the ear
16.7%
Abnormality of the genitourinary system
13.3%
Neoplasm
13.3%
Abnormality of blood and blood-forming tissues
10%
Abnormality of the digestive system
10%
Abnormality of the endocrine system
10%
Abnormality of the eye
10%
Abnormality of head or neck
6.7%
Abnormality of the immune system
6.7%
Abnormality of the integument
6.7%
Growth abnormality
6.7%
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 respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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