Variant (rsID / SNP)

rs146360505

rs146360505 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALDOB. Location: chromosome 9, position 104,187,775. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ALDOBConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 9:104187775
Cytoband: 9q31.1
HGVS: NM_000035.4(ALDOB):c.759C>T (p.Thr253=)
Allele change: Synonymous_T253T

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.