TNPO3 - Gene browser

TNPO3

transportin 3

HCNC Approved Symbol: TNPO3 (HGNC:17103)
Genomic Coordinates: 7:128,954,185 - 129,056,193 (7q32.1)
Synonyms: TRN-SR, MTR10A, TRN-SR2, IPO12, LGMD1F
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 TNPO3 gene.

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

06
Patient count

Limb weakness: 4 (66.7%)
Patient Count: 4 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
4 (66.7%)
Myopathy: 4 (66.7%)
Patient Count: 4 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
4 (66.7%)
Elevated creatine kinase: 3 (50.0%)
Patient Count: 3 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (50.0%)
Muscle weakness: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Gowers sign: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)