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GNAT1

Synonyms
CSNB1G, CSNBAD3, GBT1, GNATR, HG1F
External resources
Summary
Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in rods. This gene is also expressed in other cells, and has been implicated in bitter taste transduction in rat taste cells. Mutations in this gene result in autosomal dominant congenital stationary night blindness. Multiple alternatively spliced variants, encoding the same protein, have been identified.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
8
Likely pathogenic
0
VUS
2,631
Likely benign
381
Benign
45

Patient phenotypes

Proportions of phenotypes among 8 patients carrying pathogenic or likely pathogenic variants on GNAT1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
62.5%
Abnormality of the cardiovascular system
37.5%
Abnormality of head or neck
25%
Abnormality of the digestive system
25%
Abnormality of the immune system
25%
Abnormality of the nervous system
25%
Abnormality of blood and blood-forming tissues
12.5%
Abnormality of prenatal development or birth
12.5%
Abnormality of the ear
12.5%
Abnormality of the genitourinary system
12.5%
Abnormality of the integument
12.5%
Abnormality of the musculoskeletal system
12.5%
Growth abnormality
12.5%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
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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