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NM_000255.4(MMUT):c.2194_2197delinsTGGAA (p.Ala732fs) AND Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Significance: Pathogenic
ClinVar: RCV000235587

Variant: NM_000255.4(MMUT):c.2194_2197delinsTGGAA (p.Ala732fs)

Type: Variant
Allele: NM_000255.4(MMUT):c.2194_2197delinsTGGAA (p.Ala732fs) 224619
Gene:
Type: Indel
Location: Chr6: 49399497 - 49399500 - assembly GRCh37
Chr6: 49431784 - 49431787 - assembly GRCh38
References: dbSNP: 879253851

Condition

Disease: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency