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Variant (rsID / SNP)

rs34258482

MMACHC

rs34258482 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMACHC. Location: chromosome 1, position 45,974,837. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MMACHCConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:45974837
Cytoband
1p34.1
HGVS
NM_015506.3(MMACHC):c.799C>T (p.Arg267Trp)
Allele change
Missense_R210W

Associated conditions / phenotypes

Disorders of Intracellular Cobalamin Metabolism|Cobalamin C disease|Methylmalonic acidemia with homocystinuria cblC

Public references

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