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SLC1A4

Synonyms
ASCT1, SATT, SPATCCM
External resources
Summary
The protein encoded by this gene is a sodium-dependent neutral amino acid transporter for alanine, serine, cysteine, and threonine. Defects in this gene have been associated with developmental delay, microcephaly, and intellectual disability.

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
4
Likely pathogenic
2
VUS
821
Likely benign
1,104
Benign
51

Patient Phenotypes

Proportions of phenotypes among 6 patients carrying pathogenic or likely pathogenic variants on SLC1A4 gene are displayed below. The following symptoms were found in patients with a variant in SLC1A4. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
66.7%
Abnormality of the nervous system
50%
Abnormality of the musculoskeletal system
33.3%
Abnormality of head or neck
16.7%
Abnormality of limbs
16.7%
Abnormality of metabolism homeostasis
16.7%
Abnormality of prenatal development or birth
16.7%
Abnormality of the ear
16.7%
Abnormality of the endocrine system
16.7%
Growth abnormality
16.7%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the integument
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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