MAN2C1 Chromosome 15
Mannosidase alpha class 2C member 1
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What This Gene Does
Predicted to enable alpha-mannosidase activity. Predicted to be involved in oligosaccharide catabolic process. Located in nucleoplasm. Implicated in congenital disorder of deglycosylation 2. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Mannosidases alpha class 2
Locus Type
gene with protein product
Location
15q24.2
Ensembl
ENSG00000140400
Associated Conditions (1)
Congenital disorder of deglycosylation 2
Key Variants
RS147928844
Conflicting classifications of pathogenicity
Congenital disorder of deglycosylation 2, Congenital disorder of deglycosylation 2
Health Risk
RS756427418
Conflicting classifications of pathogenicity
Congenital disorder of deglycosylation 2, Congenital disorder of deglycosylation 2
Health Risk
RS143755898
Likely pathogenic
Congenital disorder of deglycosylation 2, Congenital disorder of deglycosylation 2
Health Risk
RS190692217
Likely pathogenic
Congenital disorder of deglycosylation 2, Congenital disorder of deglycosylation 2
Health Risk
RS763231900
Likely pathogenic
Congenital disorder of deglycosylation 2, Congenital disorder of deglycosylation 2
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147928844 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of deglycosylation 2, Congenital disorder of deglycosylation 2 |
| RS756427418 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of deglycosylation 2, Congenital disorder of deglycosylation 2 |
| RS143755898 | Health Risk | Likely pathogenic | Congenital disorder of deglycosylation 2, Congenital disorder of deglycosylation 2 |
| RS190692217 | Health Risk | Likely pathogenic | Congenital disorder of deglycosylation 2, Congenital disorder of deglycosylation 2 |
| RS763231900 | Health Risk | Likely pathogenic | Congenital disorder of deglycosylation 2, Congenital disorder of deglycosylation 2 |