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GBP4

Synonyms
Mpa2
External resources
Summary
Guanylate-binding proteins, such as GBP4, are induced by interferon and hydrolyze GTP to both GDP and GMP (Vestal, 2005

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
31
Likely pathogenic
44
VUS
5,815
Likely benign
325
Benign
0

Patient Phenotypes

Proportions of phenotypes among 75 patients carrying pathogenic or likely pathogenic variants on GBP4 gene are displayed below. The following symptoms were found in patients with a variant in GBP4. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.7%
Abnormality of the eye
38.7%
Abnormality of the musculoskeletal system
28%
Abnormality of head or neck
22.7%
Abnormality of the ear
16%
Growth abnormality
16%
Abnormality of the cardiovascular system
14.7%
Abnormality of limbs
12%
Abnormality of the digestive system
12%
Abnormality of the integument
10.7%
Abnormality of the endocrine system
8%
Abnormality of the genitourinary system
8%
Abnormality of blood and blood forming tissues
5.3%
Abnormality of metabolism homeostasis
5.3%
Neoplasm
5.3%
Abnormality of prenatal development or birth
2.7%
Abnormality of the immune system
2.7%
Abnormality of the respiratory system
2.7%
Abnormality of the breast
1.3%
Abnormal cellular phenotype
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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