Variant (rsID / SNP)

rs398123277

rs398123277 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMUT. Location: chromosome 6, position 49,408,021. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MMUTUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: Microsatellite
Chromosome / position: 6:49408021
Cytoband: 6p12.3
HGVS: NM_000255.4(MMUT):c.1849CTT[1] (p.Leu618del)

Associated conditions / phenotypes

Methylmalonic aciduria due to methylmalonyl-CoA mutase 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.