Home > Gene Browser > DEFB124

DEFB124

Synonyms
DEFB-24
External resources
Summary
Defensins are cysteine-rich cationic polypeptides that are important in the host immunologic response to invading microorganisms. This antimicrobial protein is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20q11.1. The encoded protein may serve to enhance innate immunity in the prostate.

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
1,433
Likely benign
173
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on DEFB124 gene.

Phenotype class
Patients in 3billion (%)

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes