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RNF213

ring finger protein 213

HCNC Approved Symbol
RNF213 (HGNC:14539)
Genomic Coordinates
17:80,260,852 - 80,398,794 (17q25.3)
Synonyms
KIAA1554, NET57, ALO17, C17orf27, KIAA1618, MYMY2
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

115Patients

In total, 115 patients were diagnosed with a variant in the RNF213 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Stroke
 75 (65.2%)
Moyamoya phenomenon
 18 (15.7%)
Pain
 
12 (10.4%)
Left ventricular hypertrophy
 
11 (9.6%)
Paresthesia
 
11 (9.6%)
RNF213 - Gene browser | 3billion