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PARPBP

Synonyms
AROM, C12orf48, PARI
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
25
Likely pathogenic
450
VUS
5,027
Likely benign
266
Benign
0

Patient phenotypes

Proportions of phenotypes among 474 patients carring pathogenic or likely pathogenic variants on PARPBP gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38%
Abnormality of the musculoskeletal system
20.7%
Abnormality of the cardiovascular system
19.8%
Abnormality of the ear
16.9%
Abnormality of head or neck
16%
Growth abnormality
12.9%
Abnormality of the eye
12.7%
Abnormality of the genitourinary system
7.4%
Abnormality of the digestive system
6.1%
Abnormality of the immune system
5.7%
Abnormality of limbs
5.5%
Abnormality of blood and blood-forming tissues
4.4%
Abnormality of the integument
3.6%
Abnormality of prenatal development or birth
3%
Neoplasm
3%
Abnormality of the endocrine system
2.3%
Abnormality of the respiratory system
2.3%
Constitutional symptom
0.6%
Abnormal cellular phenotype
0.2%
Abnormality of the breast
0.2%
Abnormality of the voice
0.2%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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