Variant (rsID / SNP)

rs190834116

rs190834116 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMUT. Location: chromosome 6, position 49,426,896. The table records no clinical significance for this variant.

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Reference-table entries

MMUTNot classified

Variant type: single nucleotide variant
Chromosome / position: 6:49426896
Cytoband: 6p12.3
HGVS: NM_000255.4(MMUT):c.284C>G (p.Pro95Arg)
Allele change: Missense_P95L

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.