Variant (rsID / SNP)
rs201591116
rs201591116 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBP1. Location: chromosome 9, position 97,382,707. 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
- 9:97382707
- Cytoband
- 9q22.32
- HGVS
- NM_000507.4(FBP1):c.237C>T (p.Asn79=)
- Allele change
- Synonymous_N79N
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.