PRPF31 - Gene browser

PRPF31

pre-mRNA processing factor 31

HCNC Approved Symbol: PRPF31 (HGNC:15446)
Genomic Coordinates: 19:54,115,754 - 54,131,713 (19q13.42)
Synonyms: NY-BR-99, PRP31, hPrp31, SNRNP61, RP11
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

30Patients

In total, 30 patients were diagnosed with a variant in the PRPF31 gene.

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

030
Patient count

Retinitis pigmentosa: 17 (56.7%)
Patient Count: 17 (56.7%)
% of total patients presenting each phenotype is shown in parentheses.
17 (56.7%)
Night blindness: 11 (36.7%)
Patient Count: 11 (36.7%)
% of total patients presenting each phenotype is shown in parentheses.
11 (36.7%)
Decreased visual acuity: 10 (33.3%)
Patient Count: 10 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
10 (33.3%)
Retinal dystrophy: 2 (6.7%)
Patient Count: 2 (6.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (6.7%)
Rod-cone dystrophy: 1 (3.3%)
Patient Count: 1 (3.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (3.3%)