Variant (rsID / SNP)

rs3739721

rs3739721 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALDOB. Location: chromosome 9, position 104,188,842. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ALDOBBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:104188842
Cytoband: 9q31.1
HGVS: NM_000035.4(ALDOB):c.619G>C (p.Glu207Gln)
Allele change: Missense_E207Q

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.