PRPF4 - Gene browser | 3billion

PRPF4

PRPF4

pre-mRNA splicing tri-snRNP complex factor PRPF4

HCNC Approved Symbol: PRPF4 (HGNC:17349)
Genomic Coordinates: 9:113,275,658 - 113,292,905 (9q32)
Synonyms: Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the PRPF4 gene.

Frequently observed phenotypes(Top 5 only)

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

02
Patient count

Decreased visual acuity: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Night blindness: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Retinal dystrophy: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)

Last updated: 2024-06-30

PRPF4 - Gene browser | 3billion