{{Rsnum
|rsid=1133330
|Gene=MAN2B1
|Chromosome=19
|position=12661276
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.258
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=MAN2B1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 12.5 | 50.0 | 37.5
| HCB | 0.7 | 12.4 | 86.9
| JPT | 0.0 | 11.5 | 88.5
| YRI | 9.5 | 42.9 | 47.6
| ASW | 12.3 | 31.6 | 56.1
| CHB | 0.7 | 12.4 | 86.9
| CHD | 0.9 | 13.1 | 86.0
| GIH | 2.0 | 30.0 | 68.0
| LWK | 7.3 | 37.3 | 55.5
| MEX | 5.2 | 41.4 | 53.4
| MKK | 5.2 | 41.3 | 53.5
| TSI | 19.0 | 49.0 | 32.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=1133330
|allele=T
|frequency=0.375
|uid=1103691093374
|type=heterozygous_SNP
|hugo=MAN2B1
|ensembl gene=ENSG00000104774
|ensembl transcript=ENST00000221363
|sift=TOLERATED
|disease=Defects in MAN2B1 are the cause of lysosomal alpha- mannosidosis (AM) (MIM:248500). AM is a lysosomal storage disease characterized by accumulation of unbranched oligosaccharide chains. This accumulation is expressed histologically as cytoplasmic vacuolation predominantly in the CNS and parenchymatuos organs. Depending on the clinical findings at the age of onset, a severe infantile (type I) and a mild juvenile (type II) form of alpha-mannosidosis are recognized. There is considerable variation in the clinical expression with mental retardation, recurrent infections, impaired hearing and Hurler- like skeletal changes being the most consistent abnormalities.
}}

{{ neighbor
| rsid = 1054487
| distance = 75
}}

{{GET Evidence
|gene=MAN2B1
|aa_change=Arg337Gln
|aa_change_short=R337Q
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1133330
|overall_frequency_n=4014
|overall_frequency_d=10758
|overall_frequency=0.373118
|n_genomes=33
|n_genomes_annotated=0
|n_haplomes=40
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=3
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|pph2_score=0.027
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=0
|autoscore=3
|n_web_uneval=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}