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RFPL4AL1

Synonyms
RNF210B
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
46
Likely pathogenic
48
VUS
8,708
Likely benign
41
Benign
0

Patient phenotypes

Proportions of phenotypes among 93 patients carring pathogenic or likely pathogenic variants on RFPL4AL1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
55.9%
Abnormality of the musculoskeletal system
40.9%
Abnormality of head or neck
34.4%
Abnormality of the eye
33.3%
Abnormality of the integument
18.3%
Abnormality of limbs
17.2%
Abnormality of the genitourinary system
17.2%
Growth abnormality
16.1%
Abnormality of the ear
12.9%
Abnormality of blood and blood-forming tissues
11.8%
Abnormality of the cardiovascular system
11.8%
Abnormality of the respiratory system
9.7%
Abnormality of the immune system
8.6%
Abnormality of the digestive system
7.5%
Abnormality of the endocrine system
4.3%
Abnormality of prenatal development or birth
2.2%
Abnormality of the breast
2.2%
Abnormality of the voice
2.2%
Constitutional symptom
2.2%
Neoplasm
2.2%
Abnormal cellular phenotype
1.1%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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