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BPIFB1

Synonyms
C20orf114, LPLUNC1
External resources
Summary
The protein encoded by this gene may be involved in the innate immune response to bacterial exposure in the mouth, nasal cavities, and lungs. The encoded protein is secreted and is a member of the BPI/LBP/PLUNC protein superfamily. This gene is found with other members of the superfamily in a cluster on chromosome 20.

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
2,164
Likely benign
3,019
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on BPIFB1 gene.

Phenotype class
Patients in 3billion (%)

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