Variant (rsID / SNP)
rs119486097
rs119486097 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC9A3R1. Location: chromosome 17, position 72,759,575. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
SLC9A3R1Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:72759575
- Cytoband
- 17q25.1
- HGVS
- NM_004252.5(SLC9A3R1):c.673G>A (p.Glu225Lys)
- Allele change
- Missense_E225K
Associated conditions / phenotypes
Hypophosphatemic nephrolithiasis/osteoporosis 2|Hypophosphatemia|Nephrolithiasis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.