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FRMD3

Synonyms
4.1O, EPB41L4O, EPB41LO, P410
External resources
Summary
The protein encoded by this gene is a single pass membrane protein primarily found in ovaries. A similar protein in erythrocytes helps determine the shape of red blood cells, but the function of the encoded protein has not been determined. There is some evidence that this is a tumor suppressor gene, and there is also evidence linking defects in this gene to susceptibility to diabetic nephropathy in type 1 diabetes. Several transcript variants encoding different isoforms have been found for this gene.

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
14,450
Likely benign
3,525
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on FRMD3 gene.

Phenotype class
Patients in 3billion (%)

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