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DEFB108B

Synonyms
DEFB-8, hBD-8
External resources
Summary
Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. A pseudogene of this gene has been found on chromosome 8.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
15
Likely pathogenic
1
VUS
600
Likely benign
68
Benign
0

Patient Phenotypes

Proportions of phenotypes among 16 patients carrying pathogenic or likely pathogenic variants on DEFB108B gene are displayed below. The following symptoms were found in patients with a variant in DEFB108B. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
37.5%
Abnormality of the musculoskeletal system
31.3%
Abnormality of the nervous system
31.3%
Abnormality of head or neck
18.8%
Abnormality of the cardiovascular system
18.8%
Abnormality of the digestive system
18.8%
Growth abnormality
18.8%
Abnormality of blood and blood forming tissues
12.5%
Abnormality of the ear
12.5%
Abnormality of the integument
12.5%
Abnormality of limbs
6.3%
Abnormality of the endocrine system
6.3%
Abnormality of the genitourinary system
6.3%
Abnormality of the immune system
6.3%
Neoplasm
6.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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