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PRAC2

Synonyms
C17orf93, HOXB-AS5, HOXB13-AS1, HOXBAS5, NCRNA00253
External resources
Summary
This gene is highly expressed in prostate, rectum, colon, and testis. This gene may produce a non-coding RNA or may encode a short protein that might localize to the nucleus. Alternative splicing results in multiple transcript variants.

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
73
Likely pathogenic
82
VUS
461
Likely benign
3
Benign
0

Patient phenotypes

Proportions of phenotypes among 155 patients carring pathogenic or likely pathogenic variants on PRAC2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
43.9%
Abnormality of the musculoskeletal system
25.2%
Abnormality of head or neck
23.9%
Abnormality of the cardiovascular system
16.8%
Abnormality of the eye
16.1%
Abnormality of the ear
14.8%
Growth abnormality
12.3%
Abnormality of the genitourinary system
10.3%
Abnormality of limbs
9%
Abnormality of the integument
9%
Abnormality of the endocrine system
5.2%
Abnormality of the immune system
5.2%
Abnormality of the digestive system
3.9%
Abnormality of blood and blood-forming tissues
3.2%
Abnormality of prenatal development or birth
3.2%
Neoplasm
2.6%
Abnormality of the respiratory system
1.3%
Abnormality of the breast
0.6%
Abnormality of the voice
0.6%
Constitutional symptom
0.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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