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SIN3A

Synonyms
WITKOS
External resources
Summary
The protein encoded by this gene is a transcriptional regulatory protein. It contains paired amphipathic helix (PAH) domains, which are important for protein-protein interactions and may mediate repression by the Mad-Max complex.

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
0
VUS
9,959
Likely benign
4,109
Benign
0

Patient phenotypes

Proportions of phenotypes among 2 patients carrying pathogenic or likely pathogenic variants on SIN3A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
100%
Abnormality of head or neck
50%
Abnormality of limbs
50%
Abnormality of prenatal development or birth
50%
Abnormality of the cardiovascular system
50%
Abnormality of the ear
50%
Abnormality of the endocrine system
50%
Abnormality of the genitourinary system
50%
Abnormality of the musculoskeletal system
50%
Growth abnormality
50%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the eye
0%
Abnormality of the immune system
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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