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CD226

Synonyms
DNAM-1, DNAM1, PTA1, TLiSA1
External resources
Summary
This gene encodes a glycoprotein expressed on the surface of NK cells, platelets, monocytes and a subset of T cells. It is a member of the Ig-superfamily containing 2 Ig-like domains of the V-set. The protein mediates cellular adhesion of platelets and megakaryocytic cells to vascular endothelial cells. The protein also plays a role in megakaryocytic cell maturation. Alternative splicing results in multiple transcript variants.

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
1,282
Likely benign
8,612
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on CD226 gene.

Phenotype class
Patients in 3billion (%)

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