Gene entry
SLC19A3
solute carrier family 19 member 3
- Chromosome
- 2
- Cytoband
- 2q36.3
- Variants (rsID)
- 24
SLC19A3 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q36.3). Its official name is “solute carrier family 19 member 3”. The reference table lists 24 variants (rsID) for this gene.
Clinically classified variants
11 reference-table entries with clinical significance.
- rs17853011Benignsingle nucleotide variantBiotin-responsive basal ganglia disease
- rs34507036Benignsingle nucleotide variantBiotin-responsive basal ganglia disease
- rs73997321Benignsingle nucleotide variant
- rs138363524Conflicting interpretationssingle nucleotide variantBiotin-responsive basal ganglia disease
- rs149806390Conflicting interpretationssingle nucleotide variantBiotin-responsive basal ganglia disease
- rs188532608Conflicting interpretationssingle nucleotide variantBiotin-responsive basal ganglia disease
- rs199558186Conflicting interpretationssingle nucleotide variantBiotin-responsive basal ganglia disease|Intellectual disability
- rs121917882Pathogenicsingle nucleotide variantBiotin-responsive basal ganglia disease
- rs775835429PathogenicDuplicationBiotin-responsive basal ganglia disease
- rs786205213PathogenicDuplicationBiotin-responsive basal ganglia disease
- rs189540672Uncertain significancesingle nucleotide variantBiotin-responsive basal ganglia disease
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.