SLC13A5 Chromosome 17
Solute carrier family 13 member 5
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What This Gene Does
This gene encodes a protein belonging to the solute carrier family 13 group of proteins. This family member is a sodium-dependent citrate cotransporter that may regulate metabolic processes. Mutations in this gene cause early infantile epileptic encephalopathy 25. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
Gene Info
Gene Group
Solute carrier family 13
Locus Type
gene with protein product
Location
17p13.1
Ensembl
ENSG00000141485
Associated Conditions (12)
Developmental and epileptic encephalopathy
25
Inborn genetic diseases
SLC13A5-related disorder
Colon adenocarcinoma
See cases
Epileptic encephalopathy
Global developmental delay
Seizure
Chronic kidney disease
Undetermined early-onset epileptic encephalopathy
Intellectual disability
Key Variants
RS1057518298
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 25, Developmental and epileptic encephalopathy
Health Risk
RS1211773372
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 25, Inborn genetic diseases
Health Risk
RS1336828226
Conflicting classifications of pathogenicity
Health Risk
RS138834680
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 25, SLC13A5-related disorder
Health Risk
RS1392358462
Conflicting classifications of pathogenicity
Inborn genetic diseases, Developmental and epileptic encephalopathy, 25
Health Risk
RS142320179
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 25, Inborn genetic diseases
Health Risk
RS146047560
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 25, Inborn genetic diseases
Health Risk
RS149447388
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 25, Inborn genetic diseases
Health Risk
RS1973699059
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 25, Developmental and epileptic encephalopathy
Health Risk
RS1973796030
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 25, Developmental and epileptic encephalopathy
Health Risk
RS199620361
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 25, Inborn genetic diseases
Health Risk
RS201036096
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 25, Inborn genetic diseases
Health Risk
All Variants (70)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2151485510 | Health Risk | Pathogenic | — |
| RS2544612394 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 25, Developmental and epileptic encephalopathy |
| RS2544618037 | Health Risk | Pathogenic | — |
| RS2544620617 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 25, Developmental and epileptic encephalopathy |
| RS2544634307 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 25, Developmental and epileptic encephalopathy |
| RS2544638357 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 25, Developmental and epileptic encephalopathy |
| RS2544641047 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 25, Developmental and epileptic encephalopathy |
| RS2544660833 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 25, Developmental and epileptic encephalopathy |
| RS2544661194 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 25, Developmental and epileptic encephalopathy |
| RS766330201 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 25, Developmental and epileptic encephalopathy |
| RS863225447 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 25, Developmental and epileptic encephalopathy |
| RS863225448 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 25, Developmental and epileptic encephalopathy |
| RS144332569 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 25, Inborn genetic diseases |
| RS150203483 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 25, Developmental and epileptic encephalopathy |
| RS1555541486 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 25, Developmental and epileptic encephalopathy |
| RS1597657030 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 25, Developmental and epileptic encephalopathy |
| RS548065551 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 25, SLC13A5-related disorder |
| RS587777577 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 25, Undetermined early-onset epileptic encephalopathy |
| RS761917087 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 25, Intellectual disability |
| RS773770609 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 25, Inborn genetic diseases |