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Variant (rsID / SNP)

rs61750442

MMADHC

rs61750442 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMADHC. Location: chromosome 2, position 150,438,708. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MMADHCBenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
2:150438708
Cytoband
2q23.2
HGVS
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn)
Allele change
Missense_K29N

Associated conditions / phenotypes

Disorders of Intracellular Cobalamin Metabolism|Methylmalonic aciduria and homocystinuria type cblD

Public references

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