Variant (rsID / SNP)

rs78340951

rs78340951 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALDOB. Location: chromosome 9, position 104,184,181. 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: 9:104184181
Cytoband: 9q31.1
HGVS: NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys)
Allele change: Missense_N335K

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.