Variant (rsID / SNP)

rs77116243

rs77116243 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DMGDH. Location: chromosome 5, position 78,338,202. Clinical significance in the table: Benign.

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Reference-table entries

DMGDHBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:78338202
Cytoband: 5q14.1
HGVS: NM_013391.3(DMGDH):c.1097A>G (p.Asn366Ser)
Allele change: Missense_N366S

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.