Gene entry
SLC34A1
solute carrier family 34 member 1
- Chromosome
- 5
- Cytoband
- 5q35.3
- Variants (rsID)
- 15
SLC34A1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5q35.3). Its official name is “solute carrier family 34 member 1”. The reference table lists 15 variants (rsID) for this gene.
Clinically classified variants
6 reference-table entries with clinical significance.
- rs115119084Benignsingle nucleotide variantHereditary angioneurotic edema|Factor XII deficiency disease|Nephrolithiasis/osteoporosis, hypophosphatemic|Hereditary angioedema type 3
- rs143201338Conflicting interpretationssingle nucleotide variantHypophosphatemic nephrolithiasis/osteoporosis 1
- rs199988476Conflicting interpretationssingle nucleotide variantFactor XII deficiency disease|Nephrolithiasis/osteoporosis, hypophosphatemic|F12-Related Disorders
- rs200095793Conflicting interpretationssingle nucleotide variantHypercalcemia, infantile, 2|Hypophosphatemic nephrolithiasis/osteoporosis 1
- rs34044544Conflicting interpretationssingle nucleotide variantHypophosphatemic nephrolithiasis/osteoporosis 1|Fanconi renotubular syndrome 2
- rs148976897Likely benignsingle nucleotide variantHypophosphatemic nephrolithiasis/osteoporosis 1|Nephrocalcinosis
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.