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Variant (rsID / SNP)

rs143460342

D2HGDH

rs143460342 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to D2HGDH. Location: chromosome 2, position 242,707,205. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

D2HGDHConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:242707205
Cytoband
2q37.3
HGVS
NM_152783.5(D2HGDH):c.1387G>A (p.Glu463Lys)
Allele change
Missense_E276K

Associated conditions / phenotypes

Seizure|D-2-hydroxyglutaric aciduria 1

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.