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IRAK1BP1

Synonyms
AIP70, SIMPL
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
21
Likely pathogenic
0
VUS
1,587
Likely benign
291
Benign
0

Patient phenotypes

Proportions of phenotypes among 15 patients carring pathogenic or likely pathogenic variants on IRAK1BP1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
80%
Abnormality of the musculoskeletal system
53.3%
Abnormality of head or neck
40%
Abnormality of the digestive system
26.7%
Abnormality of the genitourinary system
20%
Abnormality of the integument
20%
Growth abnormality
20%
Abnormality of blood and blood-forming tissues
13.3%
Abnormality of limbs
13.3%
Abnormality of the cardiovascular system
13.3%
Abnormality of the endocrine system
13.3%
Abnormality of the eye
13.3%
Abnormality of the breast
6.7%
Abnormality of the ear
6.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the immune 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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