Home > Gene Browser > GBP6

GBP6

Synonyms
-
External resources
Summary
Guanylate-binding proteins, such as GBP6, 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
29
Likely pathogenic
0
VUS
4,524
Likely benign
65
Benign
0

Patient Phenotypes

Proportions of phenotypes among 29 patients carrying pathogenic or likely pathogenic variants on GBP6 gene are displayed below. The following symptoms were found in patients with a variant in GBP6. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.9%
Abnormality of the musculoskeletal system
24.1%
Abnormality of head or neck
20.7%
Abnormality of the eye
20.7%
Abnormality of the cardiovascular system
13.8%
Abnormality of the ear
13.8%
Abnormality of the genitourinary system
13.8%
Growth abnormality
13.8%
Abnormality of limbs
10.3%
Abnormality of the integument
6.9%
Abnormality of blood and blood forming tissues
3.4%
Abnormality of metabolism homeostasis
3.4%
Abnormality of the digestive system
3.4%
Neoplasm
3.4%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes.