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Variant (rsID / SNP)

rs147715336

MMUT

rs147715336 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMUT. Location: chromosome 6, position 49,403,267. 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
6:49403267
Cytoband
6p12.3
HGVS
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr)
Allele change
Missense_A676T

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.