Variant (rsID / SNP)

rs145078268

rs145078268 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALDOB. Location: chromosome 9, position 104,187,213. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ALDOBUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 9:104187213
Cytoband: 9q31.1
HGVS: NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln)
Allele change: Missense_R304Q

Associated conditions / phenotypes

Hereditary fructosuria

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.