rs778528128

This variant is located in the MMAB gene.

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ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter

Methylmalonic aciduria, cblB type

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About MMAB

This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found. [provided by RefSeq, Apr 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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