NSRP1 - Gene browser

NSRP1

nuclear speckle splicing regulatory protein 1

HCNC Approved Symbol: NSRP1 (HGNC:25305)
Genomic Coordinates: 17:30,116,816 - 30,186,475 (17q11.2)
Synonyms: DKFZP434K1421, NSrp70, CCDC55
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 NSRP1 gene.

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

02
Patient count

Microcephaly: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Emg: myopathic changes: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Focal seizures: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Global development delay: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Myoclonic seizures: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)