Home > Gene Browser > BDKRB1

BDKRB1

Synonyms
B1BKR, B1R, BKB1R, BKR1, BRADYB1
External resources
Summary
Bradykinin, a 9 aa peptide, is generated in pathophysiologic conditions such as inflammation, trauma, burns, shock, and allergy. Two types of G-protein coupled receptors have been found which bind bradykinin and mediate responses to these pathophysiologic conditions. The protein encoded by this gene is one of these receptors and is synthesized de novo following tissue injury. Receptor binding leads to an increase in the cytosolic calcium ion concentration, ultimately resulting in chronic and acute inflammatory responses. Several transcript variants encoding different isoforms have been found for this gene.

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
30
Likely pathogenic
0
VUS
3,642
Likely benign
222
Benign
0

Patient Phenotypes

Proportions of phenotypes among 30 patients carrying pathogenic or likely pathogenic variants on BDKRB1 gene are displayed below. The following symptoms were found in patients with a variant in BDKRB1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
46.7%
Abnormality of the nervous system
30%
Abnormality of the cardiovascular system
26.7%
Abnormality of the musculoskeletal system
20%
Abnormality of head or neck
16.7%
Abnormality of limbs
13.3%
Abnormality of the digestive system
10%
Growth abnormality
10%
Neoplasm
10%
Abnormality of the ear
6.7%
Abnormality of the endocrine system
6.7%
Abnormality of the immune system
6.7%
Abnormality of blood and blood forming tissues
3.3%
Abnormality of the integument
3.3%
Constitutional symptom
3.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the genitourinary system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

Have a question or need assistance? Ask here.

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