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NM_000255.4(MMUT):c.2T>C (p.Met1Thr) AND Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Significance: Pathogenic
ClinVar: RCV000236350

Variant: NM_000255.4(MMUT):c.2T>C (p.Met1Thr)

Type: Variant
Allele: NM_000255.4(MMUT):c.2T>C (p.Met1Thr) 224657
Gene:
Type: single nucleotide variant
Location: Chr6: 49459465 - assembly GRCh38
Chr6: 49427178 - assembly GRCh37
References: dbSNP: 879253820

Condition

Disease: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency