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TRIM49D1

Synonyms
TRIM49D, TRIM49D1P, TRIM49D2, TRIM49D2P, TRIM49DP
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
1
Likely pathogenic
0
VUS
796
Likely benign
0
Benign
0

Patient Phenotypes

Proportions of phenotypes among 1 patients carrying pathogenic or likely pathogenic variants on TRIM49D1 gene are displayed below. The following symptoms were found in patients with a variant in TRIM49D1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
100%
Abnormality of limbs
100%
Abnormality of the cardiovascular system
100%
Abnormality of the ear
100%
Abnormality of the endocrine system
100%
Abnormality of the eye
100%
Abnormality of the genitourinary system
100%
Abnormality of the integument
100%
Abnormality of the musculoskeletal system
100%
Abnormality of the nervous system
100%
Growth abnormality
100%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive 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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