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TBC1D3B

Synonyms
PRC17, TBC1D3I, TBC1D3L
External resources
Summary
This gene encodes a protein that is similar to TBC1 domain family, member 3. This protein contains a TBC (Tre-2, Bub2p, and Cdc16p) domain, which is found in proteins involved in RAB GTPase signaling and vesicle trafficking. There are multiple copies of this gene located within a cluster of chemokine genes on chromosome 17q.

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
22,519
Likely benign
1,832
Benign
0

Patient Phenotypes

Proportions of phenotypes among 10 patients carrying pathogenic or likely pathogenic variants on TBC1D3B gene are displayed below. The following symptoms were found in patients with a variant in TBC1D3B. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of the musculoskeletal system
40%
Abnormality of the eye
30%
Growth abnormality
20%
Abnormality of head or neck
10%
Abnormality of metabolism homeostasis
10%
Abnormality of prenatal development or birth
10%
Abnormality of the digestive system
10%
Abnormality of the ear
10%
Abnormality of the endocrine system
10%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of limbs
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the integument
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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