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TRIM49B

Synonyms
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External resources

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
22
Likely pathogenic
7
VUS
2,594
Likely benign
126
Benign
0

Patient Phenotypes

Proportions of phenotypes among 28 patients carrying pathogenic or likely pathogenic variants on TRIM49B gene are displayed below. The following symptoms were found in patients with a variant in TRIM49B. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
46.4%
Abnormality of the nervous system
39.3%
Abnormality of the ear
32.1%
Abnormality of the musculoskeletal system
28.6%
Abnormality of head or neck
21.4%
Abnormality of the genitourinary system
21.4%
Abnormality of the integument
14.3%
Abnormality of limbs
10.7%
Abnormality of metabolism homeostasis
10.7%
Growth abnormality
10.7%
Abnormality of prenatal development or birth
7.1%
Abnormality of the cardiovascular system
7.1%
Abnormality of the endocrine system
7.1%
Abnormality of the respiratory system
7.1%
Abnormality of the immune system
3.6%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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