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ABR

Synonyms
MDB
External resources
Summary
This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported 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
11
Likely pathogenic
0
VUS
10,859
Likely benign
1,447
Benign
0

Patient Phenotypes

Proportions of phenotypes among 11 patients carrying pathogenic or likely pathogenic variants on ABR gene are displayed below. The following symptoms were found in patients with a variant in ABR. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the ear
54.5%
Abnormality of the musculoskeletal system
36.4%
Abnormality of head or neck
27.3%
Abnormality of the eye
27.3%
Abnormality of the nervous system
27.3%
Abnormality of limbs
9.1%
Abnormality of prenatal development or birth
9.1%
Abnormality of the cardiovascular system
9.1%
Abnormality of the integument
9.1%
Growth abnormality
9.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
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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