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SLC38A8

Synonyms
FVH2
External resources
Summary
This gene encodes a putative sodium-dependent amino-acid/proton antiporter. The protein has eleven transmembrane domains, an extracellular N-terminus and an intracellular C-terminal tail. The protein is a member of the SLC38 sodium-coupled neutral amino acid transporter family of proteins. Mutations in this gene result in foveal hypoplasia with or without optic nerve misrouting and/or anterior segment dysgenesis.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
25
Likely pathogenic
0
VUS
3,962
Likely benign
3,953
Benign
385

Patient phenotypes

Proportions of phenotypes among 25 patients carrying pathogenic or likely pathogenic variants on SLC38A8 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
32%
Abnormality of the musculoskeletal system
28%
Abnormality of head or neck
24%
Abnormality of the cardiovascular system
16%
Abnormality of the ear
16%
Abnormality of the eye
16%
Abnormality of limbs
12%
Abnormality of the genitourinary system
12%
Abnormality of the integument
12%
Abnormality of the respiratory system
12%
Abnormality of the digestive system
8%
Growth abnormality
8%
Abnormality of blood and blood-forming tissues
4%
Abnormality of prenatal development or birth
4%
Abnormality of the immune system
4%
Neoplasm
4%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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