MAN1B1 Chromosome 9

Mannosidase alpha class 1B member 1
85 variants 85 Health Risk

Upload your DNA to see your personal genotypes for variants in MAN1B1.

What This Gene Does
This gene encodes an enzyme belonging to the glycosyl hydrolase 47 family. This enzyme functions in N-glycan biosynthesis, and is a class I alpha-1,2-mannosidase that specifically converts Man9GlcNAc to Man8GlcNAc isomer B. It is required for N-glycan trimming to Man5-6GlcNAc2 in the endoplasmic-reticulum-associated degradation pathway. Mutations in this gene cause autosomal-recessive intellectual disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
Mannosidases alpha class 1
Locus Type
gene with protein product
Location
9q34.3
Ensembl
ENSG00000177239
Associated Conditions (6)
Rafiq syndrome
Intellectual disability
Inborn genetic diseases
MAN1B1-related disorder
See cases
MAN1B1-congenital disorder of glycosylation
Key Variants
RS114057640
Conflicting classifications of pathogenicity
Rafiq syndrome, Intellectual disability, Inborn genetic diseases
Health Risk
RS114484315
Conflicting classifications of pathogenicity
Rafiq syndrome, Inborn genetic diseases, Rafiq syndrome
Health Risk
RS1224834751
Conflicting classifications of pathogenicity
Rafiq syndrome, Rafiq syndrome
Health Risk
RS1225685090
Conflicting classifications of pathogenicity
Rafiq syndrome, Rafiq syndrome
Health Risk
RS138658585
Conflicting classifications of pathogenicity
Rafiq syndrome, Inborn genetic diseases, MAN1B1-related disorder
Health Risk
RS140496149
Conflicting classifications of pathogenicity
Rafiq syndrome, Inborn genetic diseases, Rafiq syndrome
Health Risk
RS142406504
Conflicting classifications of pathogenicity
Rafiq syndrome, Inborn genetic diseases, Rafiq syndrome
Health Risk
RS1430903884
Conflicting classifications of pathogenicity
Rafiq syndrome, Rafiq syndrome
Health Risk
RS145524720
Conflicting classifications of pathogenicity
Rafiq syndrome, Inborn genetic diseases, Rafiq syndrome
Health Risk
RS145704211
Conflicting classifications of pathogenicity
Rafiq syndrome, Inborn genetic diseases, Rafiq syndrome
Health Risk
RS145906530
Conflicting classifications of pathogenicity
Rafiq syndrome, Inborn genetic diseases, Rafiq syndrome
Health Risk
RS146417316
Conflicting classifications of pathogenicity
Rafiq syndrome, Inborn genetic diseases, Rafiq syndrome
Health Risk
All Variants (85)
RSID Category Clinical Significance Conditions
RS114057640 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Intellectual disability, Inborn genetic diseases
RS114484315 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases, Rafiq syndrome
RS1224834751 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Rafiq syndrome
RS1225685090 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Rafiq syndrome
RS138658585 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases, MAN1B1-related disorder
RS140496149 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases, Rafiq syndrome
RS142406504 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases, Rafiq syndrome
RS1430903884 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Rafiq syndrome
RS145524720 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases, Rafiq syndrome
RS145704211 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases, Rafiq syndrome
RS145906530 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases, Rafiq syndrome
RS146417316 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases, Rafiq syndrome
RS147529965 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Rafiq syndrome, MAN1B1-related disorder
RS147577332 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases, MAN1B1-related disorder
RS1476136894 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Rafiq syndrome
RS149322865 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases, Rafiq syndrome
RS150436630 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Rafiq syndrome
RS150942110 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases, Rafiq syndrome
RS181795958 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases, MAN1B1-related disorder
RS186504463 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases, MAN1B1-related disorder
RS199738190 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases, Rafiq syndrome
RS200147487 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Rafiq syndrome
RS200410163 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases, Rafiq syndrome
RS201972783 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Rafiq syndrome, Inborn genetic diseases
RS202157161 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Rafiq syndrome
RS34355967 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Rafiq syndrome
RS368545529 Health Risk Conflicting classifications of pathogenicity MAN1B1-related disorder, Inborn genetic diseases, Rafiq syndrome
RS371136351 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Rafiq syndrome
RS372125925 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases, Rafiq syndrome
RS374247020 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases, Rafiq syndrome
RS374963946 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Rafiq syndrome
RS375902720 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Rafiq syndrome
RS376968555 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases, Rafiq syndrome
RS377461918 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases, Rafiq syndrome
RS387906885 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases, Rafiq syndrome
RS387906886 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, MAN1B1-related disorder, Inborn genetic diseases
RS535697514 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Rafiq syndrome
RS558619741 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases, Rafiq syndrome
RS564784943 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases, Rafiq syndrome
RS746212127 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Rafiq syndrome
RS750236367 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Rafiq syndrome
RS752478913 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Rafiq syndrome
RS754107444 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Rafiq syndrome
RS763074368 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases, Rafiq syndrome
RS765403325 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Rafiq syndrome
RS774835139 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Rafiq syndrome
RS776601946 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Rafiq syndrome
RS777042053 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases, Rafiq syndrome
RS977693376 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Rafiq syndrome
RS1164484724 Health Risk Likely pathogenic Rafiq syndrome, Rafiq syndrome
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