Home > Gene Browser > TSSK1B

TSSK1B

Synonyms
FKSG81, SPOGA4, STK22D, TSK1, TSSK1
External resources
Summary
TSSK1 belongs to a family of serine/threonine kinases highly expressed in testis (Hao et al., 2004

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
12
Likely pathogenic
0
VUS
638
Likely benign
776
Benign
0

Patient phenotypes

Proportions of phenotypes among 12 patients carring pathogenic or likely pathogenic variants on TSSK1B gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
58.3%
Abnormality of the nervous system
33.3%
Abnormality of the endocrine system
25%
Neoplasm
25%
Abnormality of the digestive system
16.7%
Abnormality of the genitourinary system
16.7%
Abnormality of limbs
8.3%
Abnormality of the cardiovascular system
8.3%
Abnormality of the ear
8.3%
Abnormality of the immune system
8.3%
Abnormality of the integument
8.3%
Abnormality of the musculoskeletal system
8.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of head or neck
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%
Growth abnormality
0%

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