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GBP1

Synonyms
-
External resources
Summary
Guanylate binding protein expression is induced by interferon. Guanylate binding proteins are characterized by their ability to specifically bind guanine nucleotides (GMP, GDP, and GTP) and are distinguished from the GTP-binding proteins by the presence of 2 binding motifs rather than 3.

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
9
Likely pathogenic
104
VUS
2,267
Likely benign
188
Benign
0

Patient Phenotypes

Proportions of phenotypes among 113 patients carrying pathogenic or likely pathogenic variants on GBP1 gene are displayed below. The following symptoms were found in patients with a variant in GBP1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
31.9%
Abnormality of the musculoskeletal system
23%
Abnormality of the cardiovascular system
19.5%
Abnormality of the ear
18.6%
Abnormality of head or neck
17.7%
Abnormality of the eye
15.9%
Abnormality of the genitourinary system
10.6%
Abnormality of the immune system
9.7%
Growth abnormality
8.8%
Abnormality of metabolism homeostasis
8%
Abnormality of prenatal development or birth
7.1%
Abnormality of blood and blood forming tissues
6.2%
Abnormality of limbs
5.3%
Abnormality of the digestive system
5.3%
Abnormality of the integument
4.4%
Abnormality of the respiratory system
2.7%
Abnormality of the endocrine system
1.8%
Neoplasm
1.8%
Abnormality of the breast
0.9%
Constitutional symptom
0.9%
Abnormal cellular phenotype
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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