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STAG3

Synonyms
-
External resources
Summary
The protein encoded by this gene is expressed in the nucleus and is a subunit of the cohesin complex which regulates the cohesion of sister chromatids during cell division. A mutation in this gene is associated with premature ovarian failure. Alternate splicing results in multiple transcript variants encoding distinct isoforms. This gene has multiple pseudogenes.

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
140
Likely pathogenic
0
VUS
27,326
Likely benign
5,877
Benign
0

Patient phenotypes

Proportions of phenotypes among 137 patients carring pathogenic or likely pathogenic variants on STAG3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.3%
Abnormality of the eye
27.7%
Abnormality of the musculoskeletal system
25.5%
Abnormality of the cardiovascular system
24.8%
Abnormality of head or neck
20.4%
Growth abnormality
15.3%
Abnormality of the ear
13.1%
Abnormality of the integument
13.1%
Abnormality of the genitourinary system
10.2%
Abnormality of limbs
8.8%
Abnormality of the digestive system
7.3%
Abnormality of the immune system
6.6%
Abnormality of blood and blood-forming tissues
3.6%
Abnormality of prenatal development or birth
3.6%
Abnormality of the endocrine system
3.6%
Neoplasm
3.6%
Constitutional symptom
2.9%
Abnormality of the respiratory system
2.2%
Abnormality of the breast
0.7%
Abnormality of the voice
0.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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