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TPRA1

Synonyms
GPR175, TMEM227, TPRA40
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
64
Likely pathogenic
12
VUS
1,683
Likely benign
61
Benign
0

Patient Phenotypes

Proportions of phenotypes among 48 patients carrying pathogenic or likely pathogenic variants on TPRA1 gene are displayed below. The following symptoms were found in patients with a variant in TPRA1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
37.5%
Abnormality of head or neck
35.4%
Abnormality of the nervous system
35.4%
Abnormality of the cardiovascular system
29.2%
Abnormality of the integument
20.8%
Growth abnormality
20.8%
Abnormality of the eye
18.8%
Abnormality of the ear
12.5%
Abnormality of limbs
8.3%
Abnormality of prenatal development or birth
6.3%
Abnormality of blood and blood forming tissues
4.2%
Abnormality of metabolism homeostasis
4.2%
Abnormality of the genitourinary system
4.2%
Abnormality of the immune system
4.2%
Abnormality of the respiratory system
4.2%
Neoplasm
4.2%
Abnormality of the breast
2.1%
Abnormality of the digestive system
2.1%
Abnormal cellular phenotype
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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