Variant (rsID / SNP)
rs140222720
rs140222720 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBP1. Location: chromosome 9, position 97,369,132. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
FBP1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:97369132
- Cytoband
- 9q22.32
- HGVS
- NM_000507.4(FBP1):c.670G>A (p.Val224Ile)
- Allele change
- Missense_V224I
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.