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PRPF40A

Synonyms
FBP-11, FBP11, FLAF1, FNBP3, HIP-10, HIP10, HYPA, NY-REN-6, Prp40
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
13
Likely pathogenic
0
VUS
4,305
Likely benign
343
Benign
0

Patient Phenotypes

Proportions of phenotypes among 13 patients carrying pathogenic or likely pathogenic variants on PRPF40A gene are displayed below. The following symptoms were found in patients with a variant in PRPF40A. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
46.2%
Abnormality of the eye
38.5%
Abnormality of the nervous system
38.5%
Abnormality of the musculoskeletal system
30.8%
Growth abnormality
30.8%
Abnormality of the cardiovascular system
23.1%
Abnormality of the integument
23.1%
Abnormality of limbs
15.4%
Abnormality of the ear
15.4%
Abnormality of prenatal development or birth
7.7%
Abnormality of the digestive system
7.7%
Abnormality of the genitourinary system
7.7%
Abnormality of the immune system
7.7%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of metabolism homeostasis
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%
Constitutional symptom
0%
Neoplasm
0%

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