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Variant (rsID / SNP)

rs118204046

MMADHC

rs118204046 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMADHC. Location: chromosome 2, position 150,426,633. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MMADHCConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:150426633
Cytoband
2q23.2
HGVS
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys)
Allele change
Missense_Y249C

Associated conditions / phenotypes

Homocystinuria, cblD type, variant 1|Methylmalonic aciduria and homocystinuria type cblD|Cobalamin C disease|See cases

Public references

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