Variant (rsID / SNP)

rs104893644

rs104893644 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KHK. Location: chromosome 2, position 27,315,234. Clinical significance in the table: Pathogenic.

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Reference-table entries

KHKPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:27315234
Cytoband: 2p23.3
HGVS: NM_006488.3(KHK):c.127G>A (p.Ala43Thr)
Allele change: Missense_A43T

Associated conditions / phenotypes

Essential 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.