STUB1 - Gene browser

STUB1

STIP1 homology and U-box containing protein 1

HCNC Approved Symbol: STUB1 (HGNC:11427)
Genomic Coordinates: 16:680,410 - 682,801 (16p13.3)
Synonyms: UBOX1, CHIP, SDCCAG7, HSPABP2, NY-CO-7
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

8Patients

In total, 8 patients were diagnosed with a variant in the STUB1 gene.

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

08
Patient count

Cerebellar atrophy: 6 (75.0%)
Patient Count: 6 (75.0%)
% of total patients presenting each phenotype is shown in parentheses.
6 (75.0%)
Ataxia: 5 (62.5%)
Patient Count: 5 (62.5%)
% of total patients presenting each phenotype is shown in parentheses.
5 (62.5%)
Cerebellar signs: 5 (62.5%)
Patient Count: 5 (62.5%)
% of total patients presenting each phenotype is shown in parentheses.
5 (62.5%)
Dysarthria: 4 (50.0%)
Patient Count: 4 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (50.0%)
Hyperreflexia: 3 (37.5%)
Patient Count: 3 (37.5%)
% of total patients presenting each phenotype is shown in parentheses.
3 (37.5%)