Variant (rsID / SNP)
rs2276717
rs2276717 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC7A14. Location: chromosome 3, position 170,201,230. Clinical significance in the table: Benign.
Reference-table entries
SLC7A14Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:170201230
- Cytoband
- 3q26.2
- HGVS
- NM_020949.3(SLC7A14):c.988G>A (p.Gly330Arg)
- Allele change
- Missense_G330R
Associated conditions / phenotypes
Retinitis pigmentosa 68
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.