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NM_000255.4(MMUT):c.2200C>T (p.Gln734Ter) AND Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Significance: Pathogenic
ClinVar: RCV000236154

Variant: NM_000255.4(MMUT):c.2200C>T (p.Gln734Ter)

Type: Variant
Allele: NM_000255.4(MMUT):c.2200C>T (p.Gln734Ter) 224618
Gene:
Type: single nucleotide variant
Location: Chr6: 49399494 - assembly GRCh37
Chr6: 49431781 - assembly GRCh38
References: dbSNP: 879253852

Condition

Disease: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency