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DEFB121

Synonyms
DEFB21, ESC42RELC
External resources
Summary
This gene encodes a member of the beta subfamily of defensins. Beta-defensins are antimicrobial peptides that protect tissues and organs from infection by a variety of microorganisms. This gene is found in a cluster with other beta-defensin genes on the long arm of chromosome 20. Two 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
808
Likely benign
4
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on DEFB121 gene.

Phenotype class
Patients in 3billion (%)

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