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Variant (rsID / SNP)

rs140727018

MMUT

rs140727018 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMUT. Location: chromosome 6, position 49,409,599. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MMUTConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:49409599
Cytoband
6p12.3
HGVS
NM_000255.4(MMUT):c.1762C>T (p.Arg588Cys)
Allele change
Missense_R588C

Associated conditions / phenotypes

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.