GENETIC ENCYCLOPEDIA
ABOUT US    

   

NM_000255.3(MMUT):c.560C>G (p.Thr187Ser) AND Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Significance: Pathogenic
ClinVar: RCV000236147

Variant: NM_000255.3(MMUT):c.560C>G (p.Thr187Ser)

Type: Variant
Allele: NM_000255.3(MMUT):c.560C>G (p.Thr187Ser) 224647
Gene:
Type: single nucleotide variant
Location: Chr6: 49425597 - assembly GRCh37
Chr6: 49457884 - assembly GRCh38
References: dbSNP: 879253830
UniProtKB: P22033#VAR_077215

Condition

Disease: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency