Variant (rsID / SNP)
rs758609113
rs758609113 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBP1. Location: chromosome 9, position 97,380,121. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
FBP1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:97380121
- Cytoband
- 9q22.32
- HGVS
- NM_000507.4(FBP1):c.355G>A (p.Asp119Asn)
- Allele change
- Missense_D119N
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.