Variant (rsID / SNP)

rs879253852

rs879253852 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMUT. Location: chromosome 6, position 49,399,494. Clinical significance in the table: Pathogenic.

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Reference-table entries

MMUTPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:49399494
Cytoband: 6p12.3
HGVS: NM_000255.4(MMUT):c.2200C>T (p.Gln734Ter)
Allele change: Nonsense_Q734X

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.