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KEL

Synonyms
CD238, ECE3, Kell
External resources
Summary
This gene encodes a type II transmembrane glycoprotein that is the highly polymorphic Kell blood group antigen. The Kell glycoprotein links via a single disulfide bond to the XK membrane protein that carries the Kx antigen. The encoded protein contains sequence and structural similarity to members of the neprilysin (M13) family of zinc endopeptidases.

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
1,485
Likely benign
5,864
Benign
0

Patient phenotypes

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

Phenotype class
Patients in 3billion (%)

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