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SLC2A5

Synonyms
GLUT-5, GLUT5
External resources
Summary
The protein encoded by this gene is a fructose transporter responsible for fructose uptake by the small intestine. The encoded protein also is necessary for the increase in blood pressure due to high dietary fructose consumption.

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
10
Likely pathogenic
72
VUS
4,754
Likely benign
357
Benign
0

Patient Phenotypes

Proportions of phenotypes among 82 patients carrying pathogenic or likely pathogenic variants on SLC2A5 gene are displayed below. The following symptoms were found in patients with a variant in SLC2A5. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
31.7%
Abnormality of the ear
26.8%
Abnormality of the musculoskeletal system
26.8%
Abnormality of head or neck
24.4%
Abnormality of the cardiovascular system
22%
Abnormality of the eye
12.2%
Abnormality of the genitourinary system
11%
Growth abnormality
11%
Abnormality of the integument
8.5%
Abnormality of metabolism homeostasis
7.3%
Abnormality of the digestive system
7.3%
Abnormality of blood and blood forming tissues
4.9%
Abnormality of limbs
4.9%
Abnormality of prenatal development or birth
2.4%
Abnormality of the endocrine system
2.4%
Abnormality of the immune system
2.4%
Abnormality of the respiratory system
2.4%
Neoplasm
2.4%
Abnormality of the breast
1.2%
Abnormal cellular phenotype
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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