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RNF17

Synonyms
Mmip-2, SPATA23, TDRD4
External resources
Summary
This gene is similar to a mouse gene that encodes a testis-specific protein containing a RING finger domain. Alternatively spliced transcript variants encoding different isoforms have been found.

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
13
Likely pathogenic
14
VUS
9,664
Likely benign
7,836
Benign
0

Patient phenotypes

Proportions of phenotypes among 24 patients carrying pathogenic or likely pathogenic variants on RNF17 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
54.2%
Abnormality of head or neck
33.3%
Abnormality of the ear
29.2%
Abnormality of the musculoskeletal system
29.2%
Abnormality of the eye
25%
Abnormality of the integument
12.5%
Abnormality of limbs
8.3%
Abnormality of the digestive system
8.3%
Growth abnormality
8.3%
Abnormality of the breast
4.2%
Abnormality of the cardiovascular system
4.2%
Abnormality of the genitourinary system
4.2%
Abnormality of the immune system
4.2%
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 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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