Variant (rsID / SNP)
rs1131375
rs1131375 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KHK. Location: chromosome 2, position 27,323,385. Clinical significance in the table: Benign.
Reference-table entries
KHKBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:27323385
- Cytoband
- 2p23.3
- HGVS
- NM_006488.3(KHK):c.*767C>T
- Allele change
- Silent
Associated conditions / phenotypes
Essential fructosuria
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.