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SLC1A7

Synonyms
AAAT, EAAT5
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
27
Likely pathogenic
0
VUS
11,067
Likely benign
307
Benign
0

Patient Phenotypes

Proportions of phenotypes among 27 patients carrying pathogenic or likely pathogenic variants on SLC1A7 gene are displayed below. The following symptoms were found in patients with a variant in SLC1A7. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
48.1%
Abnormality of the musculoskeletal system
40.7%
Abnormality of head or neck
29.6%
Abnormality of the eye
25.9%
Growth abnormality
25.9%
Abnormality of metabolism homeostasis
18.5%
Abnormality of limbs
14.8%
Abnormality of the ear
14.8%
Abnormality of the endocrine system
14.8%
Abnormality of prenatal development or birth
7.4%
Abnormality of the cardiovascular system
7.4%
Abnormality of the genitourinary system
7.4%
Abnormality of the integument
7.4%
Abnormality of the digestive system
3.7%
Abnormality of the immune system
3.7%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of the breast
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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