TMEM43 - Gene browser | 3billion

TMEM43

TMEM43

transmembrane protein 43

HCNC Approved Symbol: TMEM43 (HGNC:28472)
Genomic Coordinates: 3:14,125,052 - 14,143,680 (3p25.1)
Synonyms: MGC3222, DKFZp586G1919, LUMA, ARVD5
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

5Patients

In total, 5 patients were diagnosed with a variant in the TMEM43 gene.

Frequently observed phenotypes(Top 5 only)

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

05
Patient count

Hypothyroidism: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Respiratory failure: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Ventricular fibrillation: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)

Last updated: 2024-06-30

TMEM43 - Gene browser | 3billion