Variant (rsID / SNP)

rs201926349

rs201926349 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to D2HGDH. Location: chromosome 2, position 242,681,953. Clinical significance in the table: Uncertain significance.

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Reference-table entries

D2HGDHUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:242681953
Cytoband: 2q37.3
HGVS: NM_152783.5(D2HGDH):c.454C>T (p.Arg152Cys)
Allele change: Silent

Associated conditions / phenotypes

D-2-hydroxyglutaric aciduria 1

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.