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Variant (rsID / SNP)

rs753288303

MMUT

rs753288303 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMUT. Location: chromosome 6, position 49,419,231. 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
6:49419231
Cytoband
6p12.3
HGVS
NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp)
Allele change
Missense_G427D

Associated conditions / phenotypes

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency|Methylmalonic acidemia|Methylmalonic aciduria due to complete 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.