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PODXL2

Synonyms
EG, PODLX2
External resources
Summary
This gene is a member of the CD34 family of cell surface transmembrane proteins, which are characterized by an N-terminal extracellular mucin domain, globular and stalk domains, a single pass transmembrane region, and a charged cytoplasmic tail. The encoded protein is a ligand for vascular selectins.

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
4,854
Likely benign
1,702
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on PODXL2 gene.

Phenotype class
Patients in 3billion (%)

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