Variant (rsID / SNP)

rs6748672

rs6748672 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MCEE. Location: chromosome 2, position 71,351,403. Clinical significance in the table: Benign.

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Reference-table entries

MCEEBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:71351403
Cytoband: 2p13.3
HGVS: NM_032601.4(MCEE):c.311G>T (p.Arg104Leu)
Allele change: Missense_R104L

Associated conditions / phenotypes

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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