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NM_000255.4(MMUT):c.467A>T (p.Asp156Val) AND Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Significance: Pathogenic
ClinVar: RCV000235227

Variant: NM_000255.4(MMUT):c.467A>T (p.Asp156Val)

Type: Variant
Allele: NM_000255.4(MMUT):c.467A>T (p.Asp156Val) 224648
Gene:
Type: single nucleotide variant
Location: Chr6: 49457977 - assembly GRCh38
Chr6: 49425690 - assembly GRCh37
References: dbSNP: 757000253
UniProtKB: P22033#VAR_077213

Condition

Disease: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency