Variant (rsID / SNP)

rs138121153

rs138121153 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALDOB. Location: chromosome 9, position 104,190,750. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

ALDOBLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:104190750
Cytoband: 9q31.1
HGVS: NM_000035.4(ALDOB):c.379+1G>A
Allele change: Silent

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.