Gene entry
SLC25A4
solute carrier family 25 member 4
- Chromosome
- 4
- Cytoband
- 4q35.1
- Variants (rsID)
- 3
SLC25A4 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 4 (region 4q35.1). Its official name is “solute carrier family 25 member 4”. The reference table lists 3 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs150786764Benignsingle nucleotide variantProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
- rs121912683Conflicting interpretationssingle nucleotide variantMitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive|Inborn mitochondrial myopathy|Mitochondrial respiratory chain defects|Hypertrophic cardiomyopathy|Abnormality of mitochondrial metabolism|Myopia|Progressive sensorineural hearing impairment|Vertigo|Left ventricular hypertrophy|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
- rs886041081Pathogenicsingle nucleotide variantMitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant|Mitochondrial disease|Inborn genetic diseases
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.