SLC1A4 Chromosome 2
Solute carrier family 1 member 4
Upload your DNA to see your personal genotypes for variants in SLC1A4.
What This Gene Does
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. [provided by RefSeq, Jan 2017]
Gene Info
Gene Group
Solute carrier family 1
Locus Type
gene with protein product
Location
2p14
Ensembl
ENSG00000115902
Associated Conditions (3)
SLC1A4-related disorder
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Inborn genetic diseases
Key Variants
RS139319094
Conflicting classifications of pathogenicity
Health Risk
RS141895894
Conflicting classifications of pathogenicity
SLC1A4-related disorder, SLC1A4-related disorder
Health Risk
RS201175768
Conflicting classifications of pathogenicity
SLC1A4-related disorder, SLC1A4-related disorder
Health Risk
RS2528509856
Conflicting classifications of pathogenicity
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Health Risk
RS751293273
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS766232161
Conflicting classifications of pathogenicity
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Health Risk
RS767412828
Conflicting classifications of pathogenicity
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Health Risk
RS1572971860
Likely pathogenic
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Health Risk
RS2103675633
Likely pathogenic
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Health Risk
RS2528510595
Likely pathogenic
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Health Risk
RS2528561476
Likely pathogenic
SLC1A4-related disorder, SLC1A4-related disorder
Health Risk
RS2528576121
Likely pathogenic
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Health Risk
All Variants (33)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139319094 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS141895894 | Health Risk | Conflicting classifications of pathogenicity | SLC1A4-related disorder, SLC1A4-related disorder |
| RS201175768 | Health Risk | Conflicting classifications of pathogenicity | SLC1A4-related disorder, SLC1A4-related disorder |
| RS2528509856 | Health Risk | Conflicting classifications of pathogenicity | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome |
| RS751293273 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS766232161 | Health Risk | Conflicting classifications of pathogenicity | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome |
| RS767412828 | Health Risk | Conflicting classifications of pathogenicity | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome |
| RS1572971860 | Health Risk | Likely pathogenic | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome |
| RS2103675633 | Health Risk | Likely pathogenic | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome |
| RS2528510595 | Health Risk | Likely pathogenic | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome |
| RS2528561476 | Health Risk | Likely pathogenic | SLC1A4-related disorder, SLC1A4-related disorder |
| RS2528576121 | Health Risk | Likely pathogenic | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome |
| RS751546336 | Health Risk | Likely pathogenic | — |
| RS1057517664 | Health Risk | Pathogenic | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome |
| RS1553375174 | Health Risk | Pathogenic | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome |
| RS1558529034 | Health Risk | Pathogenic | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome |
| RS1572938044 | Health Risk | Pathogenic | — |
| RS1674284224 | Health Risk | Pathogenic | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome |
| RS201278558 | Health Risk | Pathogenic | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Inborn genetic diseases, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome |
| RS2103675757 | Health Risk | Pathogenic | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome |
| RS2528509885 | Health Risk | Pathogenic | — |
| RS2528510808 | Health Risk | Pathogenic | — |
| RS2528511199 | Health Risk | Pathogenic | — |
| RS2528575772 | Health Risk | Pathogenic | — |
| RS2528576268 | Health Risk | Pathogenic | — |
| RS2528576487 | Health Risk | Pathogenic | — |
| RS2528576536 | Health Risk | Pathogenic | — |
| RS747616493 | Health Risk | Pathogenic | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome |
| RS759832744 | Health Risk | Pathogenic | — |
| RS772094635 | Health Risk | Pathogenic | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome |
| RS1674240361 | Health Risk | Pathogenic/Likely pathogenic | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome |
| RS761533681 | Health Risk | Pathogenic/Likely pathogenic | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Inborn genetic diseases, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome |
| RS765089126 | Health Risk | Pathogenic/Likely pathogenic | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome |