UPF3B - Gene browser

UPF3B

UPF3B regulator of nonsense mediated mRNA decay

HCNC Approved Symbol: UPF3B (HGNC:20439)
Genomic Coordinates: 23:119,805,311 - 119,852,963 (Xq24)
Synonyms: RENT3B, UPF3X, HUPF3B, MRX82, MRX62, UPF3BP1, UPF3BP2, UPF3BP3
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

2Patients

In total, 2 patients were diagnosed with a variant in the UPF3B gene.

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

02
Patient count

Cleft palate: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Hearing impairment: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Pulmonary stenosis: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Pulmonic stenosis: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Ventricular septal defect: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)