Variant (rsID / SNP)

rs1800546

rs1800546 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALDOB. Location: chromosome 9, position 104,189,856. Clinical significance in the table: Pathogenic.

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Reference-table entries

ALDOBPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:104189856
Cytoband: 9q31.1
HGVS: NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)
Allele change: Missense_A150P

Associated conditions / phenotypes

Hereditary fructosuria|See cases

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.