Home > Gene Browser > AMBP

AMBP

Synonyms
A1M, EDC1, HCP, HI30, IATIL, ITI, ITIL, ITILC, UTI
External resources
Summary
This gene encodes a complex glycoprotein secreted in plasma. The precursor is proteolytically processed into distinct functioning proteins: alpha-1-microglobulin, which belongs to the superfamily of lipocalin transport proteins and may play a role in the regulation of inflammatory processes, and bikunin, which is a urinary trypsin inhibitor belonging to the superfamily of Kunitz-type protease inhibitors and plays an important role in many physiological and pathological processes. This gene is located on chromosome 9 in a cluster of lipocalin genes.

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
5,687
Likely benign
295
Benign
0

Patient phenotypes

Proportions of phenotypes among 21 patients carring pathogenic or likely pathogenic variants on AMBP gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
23.8%
Abnormality of the ear
23.8%
Abnormality of the eye
23.8%
Abnormality of the nervous system
19%
Abnormality of head or neck
14.3%
Abnormality of the musculoskeletal system
14.3%
Abnormality of limbs
9.5%
Abnormality of the genitourinary system
4.8%
Abnormality of the integument
4.8%
Abnormality of the respiratory system
4.8%
Growth abnormality
4.8%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
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 immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

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