MIB1

MIB1

MIB E3 ubiquitin protein ligase 1

HCNC Approved Symbol: MIB1 (HGNC:21086)
Genomic Coordinates: 18:21,704,916 - 21,870,953 (18q11.2)
Synonyms: DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

3billion 유전진단 검사 알아보기

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the MIB1 gene.

Frequently observed phenotypes(Top 5 only)

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

01
Patient count

Arrhythmias: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Hypertrophic cardiomyopathy: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Left ventricular hypertrophy: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Syncope, vasovagal: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)

Last updated: 2024-06-30