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NM_000255.3(MMUT):c.1489G>T (p.Glu497Ter) AND Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Significance: Pathogenic/Likely pathogenic
ClinVar: RCV000236003

Variant: NM_000255.3(MMUT):c.1489G>T (p.Glu497Ter)

Type: Variant
Allele: NM_000255.3(MMUT):c.1489G>T (p.Glu497Ter) 224627
Gene:
Type: single nucleotide variant
Location: Chr6: 49415454 - assembly GRCh37
Chr6: 49447741 - assembly GRCh38
References: dbSNP: 879253844

Condition

Disease: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency