Variant (rsID / SNP)

rs121908331

rs121908331 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DMGDH. Location: chromosome 5, position 78,351,682. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

DMGDHLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:78351682
Cytoband: 5q14.1
HGVS: NM_013391.3(DMGDH):c.326A>G (p.His109Arg)
Allele change: Missense_H109R

Associated conditions / phenotypes

Dimethylglycine dehydrogenase deficiency

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.