ClinGen Knowledge Base | Clinical Genome Resource

MMAB

Name: MMAB
HGNC ID: HGNC:19331
Cytogenetic Location: 12q24.11
Haploinsufficiency: Associated with Autosomal Recessive Phenotype
Triplosensitivity: No Evidence

External Resources: View external resources
ClinVar Variants: View ClinVar Variants
GeneReviews®: View GeneReviews

MMAB - vitamin B12-responsive methylmalonic acidemia type cblB | MONDO:0009614

Curated by	Classification	Date	Report
Gene Dosage Sensitivity	Gene Associated with Autosomal Recessive Phenotype	06/30/2017	View report
Clinical Actionability	View report for scoring details	03/21/2018	View report

MMAB

Curated by	Classification	Date	Report
Gene Dosage Sensitivity	Gene Associated with Autosomal Recessive Phenotype	06/30/2017	View report
Gene Dosage Sensitivity	No Evidence for Triplosensitivity	06/30/2017	View report

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