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Variant (rsID / SNP)

rs121918253

MMUT

rs121918253 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMUT. Location: chromosome 6, position 49,426,831. 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
6:49426831
Cytoband
6p12.3
HGVS
NM_000255.4(MMUT):c.349G>T (p.Glu117Ter)
Allele change
Nonsense_E117X

Associated conditions / phenotypes

METHYLMALONIC ACIDURIA, mut(-) TYPE|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency|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.