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NM_000255.4(MMUT):c.397G>A (p.Gly133Arg) AND Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Significance: Pathogenic
ClinVar: RCV000235708

Variant: NM_000255.4(MMUT):c.397G>A (p.Gly133Arg)

Type: Variant
Allele: NM_000255.4(MMUT):c.397G>A (p.Gly133Arg) 224650
Gene:
Type: single nucleotide variant
Location: Chr6: 49458047 - assembly GRCh38
Chr6: 49425760 - assembly GRCh37
References: dbSNP: 879253828
UniProtKB: P22033#VAR_077211

Condition

Disease: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency