Gene entry
SLC19A2
solute carrier family 19 member 2
- Chromosome
- 1
- Cytoband
- 1q24.2
- Variants (rsID)
- 10
SLC19A2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1q24.2). Its official name is “solute carrier family 19 member 2”. The reference table lists 10 variants (rsID) for this gene.
Clinically classified variants
7 reference-table entries with clinical significance.
- rs17847484Benignsingle nucleotide variantThiamine-responsive megaloblastic anemia|Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
- rs1983546Benignsingle nucleotide variant
- rs201489069Conflicting interpretationssingle nucleotide variantMegaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness|Thiamine-responsive megaloblastic anemia
- rs75099879Conflicting interpretationssingle nucleotide variantMegaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness|Thiamine-responsive megaloblastic anemia|Monogenic diabetes
- rs772886076Conflicting interpretationssingle nucleotide variantMegaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness|Thiamine-responsive megaloblastic anemia
- rs121908540Pathogenicsingle nucleotide variantMegaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
- rs28937595Pathogenicsingle nucleotide variantMegaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
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.
