{{Rsnum
|rsid=80338680
|Gene=MAN2B1
|Chromosome=19
|position=12649932
|Orientation=minus
|GMAF=0.0004591
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=MAN2B1
}}{{omim
|id=609458
|rsnum=80338680
|variant=0004
}}{{ClinVar
|rsid=80338680
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=12760746
|CHROM=19
|GMAF=0.0005
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050168000000000016110100
|GENEINFO=MAN2B1:4125
|GENE_NAME=MAN2B1
|GENE_ID=4125
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000019.9:g.12760746G>A
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK1396; 609458.0004
|CLNSIG=5
|CLNCUI=C0024748
|CLNDBN=Deficiency of alpha-mannosidase
|Disease=Deficiency of alpha-mannosidase
|CLNACC=RCV000001755.1
|Tags=RV;PM;PMC;SLO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1396:C0024748:248500:61:124466001
|COMMON=0
}}{{PMID Auto
|PMID=9915946
|Title=Spectrum of mutations in alpha-mannosidosis.
|OA=1
}}