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PRPSAP1

Synonyms
PAP39
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
14
Likely pathogenic
0
VUS
2,836
Likely benign
36
Benign
0

Patient Phenotypes

Proportions of phenotypes among 14 patients carrying pathogenic or likely pathogenic variants on PRPSAP1 gene are displayed below. The following symptoms were found in patients with a variant in PRPSAP1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of the eye
42.9%
Abnormality of the musculoskeletal system
35.7%
Abnormality of limbs
14.3%
Abnormality of metabolism homeostasis
14.3%
Abnormality of the cardiovascular system
14.3%
Abnormality of the digestive system
14.3%
Abnormality of the ear
14.3%
Abnormality of the immune system
14.3%
Abnormality of the integument
14.3%
Abnormality of blood and blood forming tissues
7.1%
Abnormality of head or neck
7.1%
Abnormality of the genitourinary system
7.1%
Constitutional symptom
7.1%
Neoplasm
7.1%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Growth abnormality
0%

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