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SLC17A1

Synonyms
NAPI-1, NPT-1, NPT1
External resources

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
20
Likely pathogenic
6
VUS
1,865
Likely benign
425
Benign
0

Patient phenotypes

Proportions of phenotypes among 26 patients carring pathogenic or likely pathogenic variants on SLC17A1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
50%
Abnormality of the nervous system
30.8%
Abnormality of the ear
23.1%
Abnormality of the musculoskeletal system
19.2%
Growth abnormality
19.2%
Abnormality of head or neck
15.4%
Abnormality of the cardiovascular system
11.5%
Abnormality of the genitourinary system
11.5%
Abnormality of limbs
7.7%
Abnormality of the integument
7.7%
Abnormality of prenatal development or birth
3.8%
Abnormality of the endocrine system
3.8%
Abnormality of the immune system
3.8%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive 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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