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Variant (rsID / SNP)

rs121918241

MMACHC

rs121918241 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMACHC. Location: chromosome 1, position 45,974,001. Clinical significance in the table: Pathogenic.

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Reference-table entries

MMACHCPathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:45974001
Cytoband
1p34.1
HGVS
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)
Allele change
Nonsense_R75X

Associated conditions / phenotypes

Cobalamin C disease|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency|cblC type of combined methylmalonic aciduria and homocystinuria|Methylmalonic acidemia with homocystinuria cblC|Abnormality of metabolism/homeostasis

Public references

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