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PROCA1

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
18
Likely pathogenic
232
VUS
1,768
Likely benign
24
Benign
0

Patient phenotypes

Proportions of phenotypes among 249 patients carring pathogenic or likely pathogenic variants on PROCA1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
36.9%
Abnormality of the cardiovascular system
19.3%
Abnormality of the musculoskeletal system
18.9%
Abnormality of the ear
18.1%
Abnormality of head or neck
15.7%
Abnormality of the eye
12.4%
Abnormality of the genitourinary system
10.4%
Abnormality of the integument
7.2%
Growth abnormality
7.2%
Abnormality of blood and blood-forming tissues
5.6%
Abnormality of limbs
5.6%
Abnormality of the digestive system
4.8%
Abnormality of the endocrine system
4.4%
Abnormality of the immune system
4.4%
Neoplasm
3.2%
Abnormality of prenatal development or birth
2.4%
Abnormality of the respiratory system
1.2%
Abnormality of the breast
0.8%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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