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Variant (rsID / SNP)

rs147401037

MCEE

rs147401037 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MCEE. Location: chromosome 2, position 71,351,536. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MCEEConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:71351536
Cytoband
2p13.3
HGVS
NM_032601.4(MCEE):c.178A>C (p.Lys60Gln)
Allele change
Missense_K60Q

Associated conditions / phenotypes

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

Public references

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