SLC25A12 Chromosome 2
Solute carrier family 25 member 12
Upload your DNA to see your personal genotypes for variants in SLC25A12.
What This Gene Does
This gene encodes a calcium-binding mitochondrial carrier protein. The encoded protein localizes to the mitochondria and is involved in the exchange of aspartate for glutamate across the inner mitochondrial membrane. Polymorphisms in this gene may be associated with autism, and mutations in this gene may also be a cause of global cerebral hypomyelination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]
Gene Info
Gene Group
"EF-hand domain containing|Solute carrier family 25"
Locus Type
gene with protein product
Location
2q31.1
Ensembl
ENSG00000115840
Associated Conditions (5)
Developmental and epileptic encephalopathy
39
SLC25A12-related disorder
Inborn genetic diseases
1
Key Variants
RS142912356
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 39, SLC25A12-related disorder
Health Risk
RS199596322
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2105837590
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 1, 39
Health Risk
RS746499102
Conflicting classifications of pathogenicity
Health Risk
RS765417421
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS772468981
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 39, Developmental and epileptic encephalopathy
Health Risk
RS780650245
Conflicting classifications of pathogenicity
Inborn genetic diseases, Developmental and epileptic encephalopathy, 39
Health Risk
RS886037851
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 39, Developmental and epileptic encephalopathy
Health Risk
RS1553469156
Likely pathogenic
Developmental and epileptic encephalopathy, 39, Developmental and epileptic encephalopathy
Health Risk
RS1573977142
Likely pathogenic
Developmental and epileptic encephalopathy, 39, Developmental and epileptic encephalopathy
Health Risk
RS1683920780
Likely pathogenic
Health Risk
RS1685036155
Likely pathogenic
Developmental and epileptic encephalopathy, 39, Developmental and epileptic encephalopathy
Health Risk
All Variants (27)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142912356 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 39, SLC25A12-related disorder |
| RS199596322 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2105837590 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 1, 39 |
| RS746499102 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS765417421 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS772468981 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 39, Developmental and epileptic encephalopathy |
| RS780650245 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Developmental and epileptic encephalopathy, 39 |
| RS886037851 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 39, Developmental and epileptic encephalopathy |
| RS1553469156 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 39, Developmental and epileptic encephalopathy |
| RS1573977142 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 39, Developmental and epileptic encephalopathy |
| RS1683920780 | Health Risk | Likely pathogenic | — |
| RS1685036155 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 39, Developmental and epileptic encephalopathy |
| RS2105858730 | Health Risk | Likely pathogenic | — |
| RS2105895501 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 39, Developmental and epileptic encephalopathy |
| RS2545312955 | Health Risk | Likely pathogenic | — |
| RS121434396 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 39, Developmental and epileptic encephalopathy |
| RS1344745708 | Health Risk | Pathogenic | — |
| RS145411666 | Health Risk | Pathogenic | — |
| RS1558906985 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 39, Developmental and epileptic encephalopathy |
| RS2105885940 | Health Risk | Pathogenic | — |
| RS2545182699 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 39, Developmental and epileptic encephalopathy |
| RS2545188998 | Health Risk | Pathogenic | — |
| RS2545208061 | Health Risk | Pathogenic | — |
| RS2545255528 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS575028555 | Health Risk | Pathogenic | — |
| RS1268834418 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS762189046 | Health Risk | Pathogenic/Likely pathogenic | — |