SLC38A8 Chromosome 16
Solute carrier family 38 member 8
Upload your DNA to see your personal genotypes for variants in SLC38A8.
What This Gene Does
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. [provided by RefSeq, May 2014]
Gene Info
Gene Group
Solute carrier family 38
Locus Type
gene with protein product
Location
16q23.3
Ensembl
ENSG00000166558
Associated Conditions (9)
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
Inborn genetic diseases
SLC38A8-related disorder
Uterine corpus endometrial carcinoma
Leber congenital amaurosis
Foveal hypoplasia
FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS
FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING
Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis
Key Variants
RS139373929
Conflicting classifications of pathogenicity
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome, Inborn genetic diseases, Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
Health Risk
RS150844985
Conflicting classifications of pathogenicity
Inborn genetic diseases, SLC38A8-related disorder, Uterine corpus endometrial carcinoma
Health Risk
RS376444481
Conflicting classifications of pathogenicity
Health Risk
RS760391436
Conflicting classifications of pathogenicity
Leber congenital amaurosis, Leber congenital amaurosis
Health Risk
RS778342318
Conflicting classifications of pathogenicity
Health Risk
RS1057516193
Likely pathogenic
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome, Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
Health Risk
RS1057521634
Likely pathogenic
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome, Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
Health Risk
RS1178023478
Likely pathogenic
Health Risk
RS1264151343
Likely pathogenic
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome, Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
Health Risk
RS1264247948
Likely pathogenic
Health Risk
RS1306823741
Likely pathogenic
Health Risk
RS1325791118
Likely pathogenic
Health Risk
All Variants (64)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS587777257 | Health Risk | Pathogenic | Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis, Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis |
| RS747905946 | Health Risk | Pathogenic | Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome, Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome |
| RS752163032 | Health Risk | Pathogenic | — |
| RS752802453 | Health Risk | Pathogenic | Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome, Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome |
| RS756501758 | Health Risk | Pathogenic | — |
| RS763713707 | Health Risk | Pathogenic | — |
| RS764094963 | Health Risk | Pathogenic | — |
| RS777138837 | Health Risk | Pathogenic | Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome, Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome |
| RS1228073295 | Health Risk | Pathogenic/Likely pathogenic | Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome, Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome |
| RS149592537 | Health Risk | Pathogenic/Likely pathogenic | Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis, Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome, Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis |
| RS2085268536 | Health Risk | Pathogenic/Likely pathogenic | Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome, Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome |
| RS372929441 | Health Risk | Pathogenic/Likely pathogenic | Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome, Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome |
| RS761388176 | Health Risk | Pathogenic/Likely pathogenic | Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome, Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome |
| RS763615950 | Health Risk | Pathogenic/Likely pathogenic | Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome, Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome |