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NM_172250.3(MMAA):c.64C>T (p.Arg22Ter) AND Methylmalonic aciduria cblA type

Significance: Pathogenic
ClinVar: RCV000203329

Variant: NM_172250.3(MMAA):c.64C>T (p.Arg22Ter)

Type: Variant
Allele: NM_172250.3(MMAA):c.64C>T (p.Arg22Ter) 216025
Gene:
Type: single nucleotide variant
Location: Chr4: 145639203 - assembly GRCh38
Chr4: 146560355 - assembly GRCh37
References: dbSNP: 765799472

Condition

Disease: Methylmalonic aciduria cblA type