SNRNP200 - Gene browser

SNRNP200

small nuclear ribonucleoprotein U5 subunit 200

HCNC Approved Symbol: SNRNP200 (HGNC:30859)
Genomic Coordinates: 2:96,274,338 - 96,305,546 (2q11.2)
Synonyms: U5-200KD, HELIC2, KIAA0788, Brr2, ASCC3L1, RP33
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

18Patients

In total, 18 patients were diagnosed with a variant in the SNRNP200 gene.

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

018
Patient count

Retinitis pigmentosa: 14 (77.8%)
Patient Count: 14 (77.8%)
% of total patients presenting each phenotype is shown in parentheses.
14 (77.8%)
Retinal dystrophy: 3 (16.7%)
Patient Count: 3 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
3 (16.7%)
Decreased visual acuity: 2 (11.1%)
Patient Count: 2 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
2 (11.1%)
Night blindness: 2 (11.1%)
Patient Count: 2 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
2 (11.1%)
Visual field constriction: 1 (5.6%)
Patient Count: 1 (5.6%)
% of total patients presenting each phenotype is shown in parentheses.
1 (5.6%)