Variant (rsID / SNP)

rs201508880

rs201508880 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBP1. Location: chromosome 9, position 97,365,710. Clinical significance in the table: Uncertain significance.

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Reference-table entries

FBP1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 9:97365710
Cytoband: 9q22.32
HGVS: NM_000507.4(FBP1):c.970G>A (p.Asp324Asn)
Allele change: Missense_D324N

Associated conditions / phenotypes

Fructose-biphosphatase deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.