DEFB131B

defensin beta 131B, the group of Defensins, beta

Basic information

Region (hg38): 11:71878453-71884561

Links

ENSG00000225805

∙ NCBI:100129216 ∙ ∙ HGNC:38058 ∙ Uniprot:A0A096LNP1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DEFB131B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DEFB131B gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			1 clinvar			1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	1	0	0

Variants in DEFB131B

This is a list of pathogenic ClinVar variants found in the DEFB131B region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
11-71884556-T-C		not specified	Uncertain significance (Jun 22, 2021)	3081337

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Has antibacterial activity. {ECO:0000305}.;

Gene ontology

Biological process: defense response to bacterium;innate immune response
Cellular component: extracellular space
Molecular function