Variant (rsID / SNP)
rs121918188
rs121918188 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBP1. Location: chromosome 9, position 97,372,280. Clinical significance in the table: Pathogenic.
Reference-table entries
FBP1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:97372280
- Cytoband
- 9q22.32
- HGVS
- NM_000507.4(FBP1):c.490G>A (p.Gly164Ser)
- Allele change
- Missense_G164S
Associated conditions / phenotypes
Fructose-biphosphatase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.