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SLC17A9

Synonyms
C20orf59, POROK8, VNUT
External resources
Summary
This gene encodes a member of a family of transmembrane proteins that are involved in the transport of small molecules. The encoded protein participates in the vesicular uptake, storage, and secretion of adenoside triphosphate (ATP) and other nucleotides. A mutation in this gene was found in individuals with autosomal dominant disseminated superficial actinic porokeratosis-8. Alternative splicing results in multiple transcript variants.

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
11
Likely pathogenic
0
VUS
513
Likely benign
880
Benign
434

Patient phenotypes

Proportions of phenotypes among 11 patients carring pathogenic or likely pathogenic variants on SLC17A9 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
63.6%
Abnormality of the musculoskeletal system
54.5%
Abnormality of the eye
27.3%
Abnormality of head or neck
18.2%
Abnormality of the ear
18.2%
Abnormality of the digestive system
9.1%
Abnormality of the immune system
9.1%
Abnormality of the respiratory system
9.1%
Growth abnormality
9.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
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 endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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