Gene entry
SLC9A3R1
NHERF family PDZ scaffold protein 1
- Chromosome
- 17
- Cytoband
- 17q25.1
- Variants (rsID)
- 9
SLC9A3R1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17q25.1). Its official name is “NHERF family PDZ scaffold protein 1”. The reference table lists 9 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs119486097Benignsingle nucleotide variantHypophosphatemic nephrolithiasis/osteoporosis 2|Hypophosphatemia|Nephrolithiasis
- rs139622189Conflicting interpretationssingle nucleotide variant
- rs41282065Conflicting interpretationssingle nucleotide variantHypophosphatemic nephrolithiasis/osteoporosis 2|Chronic kidney 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.