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CSN1S1

Synonyms
CASA, CSN1
External resources

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
48
Likely pathogenic
0
VUS
1,955
Likely benign
980
Benign
0

Patient phenotypes

Proportions of phenotypes among 48 patients carring pathogenic or likely pathogenic variants on CSN1S1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
31.3%
Abnormality of the cardiovascular system
25%
Abnormality of head or neck
16.7%
Abnormality of the eye
16.7%
Abnormality of the musculoskeletal system
16.7%
Abnormality of the ear
14.6%
Abnormality of the genitourinary system
14.6%
Growth abnormality
10.4%
Abnormality of blood and blood-forming tissues
6.3%
Abnormality of the digestive system
6.3%
Abnormality of limbs
4.2%
Abnormality of the respiratory system
4.2%
Abnormality of prenatal development or birth
2.1%
Abnormality of the immune system
2.1%
Abnormality of the integument
2.1%
Neoplasm
2.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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