HNRNPU - Gene browser

HNRNPU

heterogeneous nuclear ribonucleoprotein U

HCNC Approved Symbol: HNRNPU (HGNC:5048)
Genomic Coordinates: 1:244,850,297 - 244,864,543 (1q44)
Synonyms: SAF-A, FLJ37978, FLJ30202, HNRPU, HNRNPU-AS1, C1orf199, NCRNA00201
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

6Patients

In total, 6 patients were diagnosed with a variant in the HNRNPU gene.

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

06
Patient count

Hypotonia: 3 (50.0%)
Patient Count: 3 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (50.0%)
Relative macrocephaly: 3 (50.0%)
Patient Count: 3 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (50.0%)
Frontal bossing: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Global development delay: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Atrial septal defect: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)