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SLC1A5

Synonyms
AAAT, ASCT2, ATBO, M7V1, M7VS1, R16, RDRC
External resources
Summary
The SLC1A5 gene encodes a sodium-dependent neutral amino acid transporter that can act as a receptor for RD114/type D retrovirus (Larriba et al., 2001

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
5
Likely pathogenic
0
VUS
3,513
Likely benign
796
Benign
0

Patient Phenotypes

Proportions of phenotypes among 5 patients carrying pathogenic or likely pathogenic variants on SLC1A5 gene are displayed below. The following symptoms were found in patients with a variant in SLC1A5. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
60%
Abnormality of the ear
40%
Abnormality of the integument
20%
Abnormality of the musculoskeletal system
20%
Growth abnormality
20%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of head or neck
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 digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the eye
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune 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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