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RNF13

Synonyms
DEE73, EIEE73, RZF
External resources
Summary
The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. The specific function of this gene has not yet been determined. Alternatively spliced transcript variants that encode the same protein have been reported. A pseudogene, which is also located on chromosome 3, has been defined for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
16
Likely pathogenic
0
VUS
6,915
Likely benign
737
Benign
1,289

Patient phenotypes

Proportions of phenotypes among 16 patients carrying pathogenic or likely pathogenic variants on RNF13 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
75%
Abnormality of the nervous system
50%
Abnormality of head or neck
43.8%
Abnormality of the eye
43.8%
Abnormality of limbs
31.3%
Abnormality of the digestive system
31.3%
Growth abnormality
31.3%
Abnormality of the genitourinary system
18.8%
Abnormality of the endocrine system
12.5%
Abnormality of the integument
12.5%
Abnormality of the cardiovascular system
6.3%
Abnormality of the ear
6.3%
Abnormality of the respiratory system
6.3%
Neoplasm
6.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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