Variant (rsID / SNP)

rs6716743

rs6716743 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to D2HGDH. Location: chromosome 2, position 242,708,072. Clinical significance in the table: Benign.

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Reference-table entries

D2HGDHBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:242708072
Cytoband: 2q37.3
HGVS: NM_152783.5(D2HGDH):c.*688G>A
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.