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TMCO3

Synonyms
C13orf11
External resources
Summary
This gene encodes a member of the monovalent cation:proton antiporter 2 (CPA2) family of transporter proteins. Members of this family typically couple the export of monovalent cations, such as potassium or sodium, to the import of protons across cellular membranes. Mutations in this gene have been identified in patients with a rare inherited vision defect, cornea guttata with anterior polar cataract.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
1,346
Likely benign
3,107
Benign
10,186

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on TMCO3 gene.

Phenotype class
Patients in 3billion (%)

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