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GBP7

Synonyms
GBP4L
External resources
Summary
Guanylate-binding proteins, such as GBP7, are induced by interferon and hydrolyze GTP to both GDP and GMP (Olszewski et al., 2006

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
91
Likely pathogenic
16
VUS
4,102
Likely benign
627
Benign
0

Patient Phenotypes

Proportions of phenotypes among 103 patients carrying pathogenic or likely pathogenic variants on GBP7 gene are displayed below. The following symptoms were found in patients with a variant in GBP7. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
57.3%
Abnormality of the musculoskeletal system
50.5%
Abnormality of head or neck
48.5%
Abnormality of the eye
32%
Abnormality of limbs
28.2%
Growth abnormality
25.2%
Abnormality of the ear
23.3%
Abnormality of the integument
19.4%
Abnormality of the cardiovascular system
16.5%
Abnormality of metabolism homeostasis
15.5%
Abnormality of the genitourinary system
15.5%
Abnormality of the digestive system
11.7%
Abnormality of blood and blood forming tissues
8.7%
Abnormality of the endocrine system
8.7%
Abnormality of the immune system
8.7%
Abnormality of prenatal development or birth
7.8%
Abnormality of the respiratory system
4.9%
Abnormality of the breast
1.9%
Neoplasm
1.9%
Abnormal cellular phenotype
1%
Abnormality of the voice
1%
Constitutional symptom
1%
Abnormality of the thoracic cavity
0%

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