Variant (rsID / SNP)

rs41272262

rs41272262 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DMGDH. Location: chromosome 5, position 78,301,172. Clinical significance in the table: Likely benign.

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Reference-table entries

DMGDHLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:78301172
Cytoband: 5q14.1
HGVS: NM_013391.3(DMGDH):c.2309G>A (p.Arg770Gln)
Allele change: Missense_R770Q

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.