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ASB18

Synonyms
ASB-18
External resources
Summary
The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation.

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
23
Likely pathogenic
4
VUS
945
Likely benign
89
Benign
0

Patient phenotypes

Proportions of phenotypes among 24 patients carring pathogenic or likely pathogenic variants on ASB18 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
33.3%
Growth abnormality
25%
Abnormality of the cardiovascular system
20.8%
Abnormality of the nervous system
20.8%
Abnormality of the musculoskeletal system
16.7%
Abnormality of blood and blood-forming tissues
12.5%
Abnormality of head or neck
12.5%
Abnormality of the ear
8.3%
Abnormality of the genitourinary system
8.3%
Abnormality of the immune system
8.3%
Abnormality of limbs
4.2%
Abnormality of the integument
4.2%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
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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