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DEFB4A

Synonyms
BD-2, DEFB-2, DEFB102, DEFB2, DEFB4, HBD-2, SAP1
External resources
Summary
Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 4, an antibiotic peptide which is locally regulated by inflammation.

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
4,190
Likely benign
436
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on DEFB4A gene.

Phenotype class
Patients in 3billion (%)

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