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RFPL4A

Synonyms
RFPL4, RNF210
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
19
Likely pathogenic
0
VUS
4,079
Likely benign
23
Benign
0

Patient phenotypes

Proportions of phenotypes among 19 patients carring pathogenic or likely pathogenic variants on RFPL4A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
73.7%
Abnormality of head or neck
42.1%
Abnormality of the musculoskeletal system
42.1%
Abnormality of the eye
36.8%
Abnormality of the integument
21.1%
Growth abnormality
21.1%
Abnormality of the cardiovascular system
15.8%
Abnormality of the ear
15.8%
Abnormality of the immune system
15.8%
Abnormality of the respiratory system
15.8%
Abnormality of the digestive system
10.5%
Abnormality of blood and blood-forming tissues
5.3%
Abnormality of limbs
5.3%
Abnormality of the breast
5.3%
Abnormality of the endocrine system
5.3%
Abnormality of the genitourinary system
5.3%
Constitutional symptom
5.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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