TOPORS - Gene browser | 3billion

TOPORS

TOPORS

TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase

HCNC Approved Symbol: TOPORS (HGNC:21653)
Genomic Coordinates: 9:32,540,544 - 32,552,586 (9p21.1)
Synonyms: TP53BPL, LUN, RP31
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 TOPORS 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%)
Macular degeneration: 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

TOPORS - Gene browser | 3billion