Home > Gene Browser > IRAK1BP1

IRAK1BP1

Synonyms
AIP70, SIMPL
External resources
Summary
-

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
1
Likely pathogenic
24
VUS
1,737
Likely benign
890
Benign
0

Patient phenotypes

Proportions of phenotypes among 14 patients carrying pathogenic or likely pathogenic variants on IRAK1BP1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
57.1%
Abnormality of the musculoskeletal system
42.9%
Abnormality of the cardiovascular system
28.6%
Abnormality of the eye
28.6%
Abnormality of head or neck
21.4%
Abnormality of the integument
21.4%
Abnormality of limbs
14.3%
Abnormality of the digestive system
14.3%
Abnormality of the immune system
14.3%
Abnormality of blood and blood-forming tissues
7.1%
Abnormality of the ear
7.1%
Abnormality of the endocrine system
7.1%
Abnormality of the genitourinary system
7.1%
Abnormality of the respiratory system
7.1%
Growth abnormality
7.1%
Neoplasm
7.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes