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TRIM49C

Synonyms
TRIM49L2
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
63
Likely pathogenic
0
VUS
6,364
Likely benign
381
Benign
0

Patient Phenotypes

Proportions of phenotypes among 62 patients carrying pathogenic or likely pathogenic variants on TRIM49C gene are displayed below. The following symptoms were found in patients with a variant in TRIM49C. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40.3%
Abnormality of the musculoskeletal system
21%
Abnormality of the eye
17.7%
Growth abnormality
14.5%
Abnormality of head or neck
11.3%
Abnormality of the cardiovascular system
11.3%
Abnormality of the ear
11.3%
Abnormality of blood and blood forming tissues
9.7%
Abnormality of metabolism homeostasis
8.1%
Abnormality of the genitourinary system
8.1%
Abnormality of the digestive system
6.5%
Abnormality of limbs
4.8%
Abnormality of the immune system
3.2%
Abnormality of the integument
3.2%
Neoplasm
3.2%
Abnormal cellular phenotype
1.6%
Abnormality of the endocrine system
1.6%
Abnormality of the respiratory system
1.6%
Constitutional symptom
1.6%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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