Variant (rsID / SNP)
rs41282065
rs41282065 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC9A3R1. Location: chromosome 17, position 72,758,167. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SLC9A3R1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:72758167
- Cytoband
- 17q25.1
- HGVS
- NM_004252.5(SLC9A3R1):c.458G>A (p.Arg153Gln)
- Allele change
- Missense_R153Q
Associated conditions / phenotypes
Hypophosphatemic nephrolithiasis/osteoporosis 2|Chronic kidney disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.