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NM_000255.4(MMUT):c.55dup (p.Val19fs) AND Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Significance: Pathogenic
ClinVar: RCV000236199

Variant: NM_000255.4(MMUT):c.55dup (p.Val19fs)

Type: Variant
Allele: NM_000255.4(MMUT):c.55dup (p.Val19fs) 224655
Gene:
Type: Duplication
Location: Chr6: 49459412 - assembly GRCh38
Chr6: 49427125 - assembly GRCh37
References: dbSNP: 879253823

Condition

Disease: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency