{{Rsnum
|rsid=9593
|Gene=MMAB
|Chromosome=12
|position=109557065
|Orientation=minus
|ReferenceAllele=T
|MissenseAllele=A
|GMAF=0.4862
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene_s=MMAB
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;T)
| geno3=(T;T)
| CEU | 23.1 | 55.4 | 21.5
| HCB | 6.7 | 37.8 | 55.6
| JPT | 9.1 | 38.6 | 52.3
| YRI | 48.4 | 46.8 | 4.8
| ASW | 0.0 | 0.0 | 0.0
| CHB | 6.7 | 37.8 | 55.6
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}

{{Venter SNP
|rsid=9593
|allele=T
|frequency=0.5
|uid=1103649536812
|type=heterozygous_SNP
|hugo=MMAB
|ensembl gene=ENSG00000139428
|ensembl transcript=ENST00000266839
|sift=TOLERATED
|disease=Defects in MMAB are the cause of methylmalonic aciduria linked to the cblB complementation group (MMAB) (MIM:251110); also known as methylmalonic aciduria type B or vitamin B12-responsive methylmalonicaciduria of cblB complementation type. MMAB is due to defective synthesis of adenosylcobalamin. Inheritance is autosomal recessive.
}}

{{GET Evidence
|gene=MMAB
|aa_change=Met239Lys
|aa_change_short=M239K
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs9593
|overall_frequency_n=6433
|overall_frequency_d=10758
|overall_frequency=0.597974
|n_genomes=44
|n_genomes_annotated=0
|n_haplomes=60
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=3
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=4
|autoscore=3
|n_web_uneval=9
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy500k}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}