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GNGT1

Synonyms
GNG1
External resources
Summary
This gene encodes the gamma subunit of transducin, a guanine nucleotide-binding protein (G protein) that is found in rod outer segments. Transducin, also known as GMPase, mediates the activation of a cyclic GTP-specific (guanosine monophosphate) phosphodiesterase by rhodopsin.

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
3
Likely pathogenic
0
VUS
2,275
Likely benign
2,299
Benign
0

Patient Phenotypes

Proportions of phenotypes among 3 patients carrying pathogenic or likely pathogenic variants on GNGT1 gene are displayed below. The following symptoms were found in patients with a variant in GNGT1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
66.7%
Abnormality of blood and blood forming tissues
33.3%
Abnormality of head or neck
33.3%
Abnormality of limbs
33.3%
Abnormality of the genitourinary system
33.3%
Abnormality of the musculoskeletal system
33.3%
Abnormality of the nervous system
33.3%
Growth abnormality
33.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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