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Variant (rsID / SNP)

rs149628174

D2HGDH

rs149628174 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to D2HGDH. Location: chromosome 2, position 242,695,306. 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
2:242695306
Cytoband
2q37.3
HGVS
NM_152783.5(D2HGDH):c.1183C>T (p.Arg395Trp)
Allele change
Missense_R208W

Associated conditions / phenotypes

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.