MAGT1 Chromosome X
Magnesium transporter 1
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What This Gene Does
This gene encodes a ubiquitously expressed magnesium cation transporter protein that localizes to the cell membrane. This protein also associates with N-oligosaccharyl transferase and therefore may have a role in N-glycosylation. Mutations in this gene cause a form of X-linked intellectual disability (XLID). This gene may have multiple in-frame translation initiation sites, one of which would encode a shorter protein with an N-terminus containing a signal peptide at amino acids 1-29. [provided by RefSeq, Jul 2017]
Gene Info
Gene Group
"Oligosaccharyltransferase complex subunits|Solute carrier family 58"
Locus Type
gene with protein product
Location
Xq21.1
Ensembl
ENSG00000102158
Associated Conditions (8)
X-linked immunodeficiency with magnesium defect
Epstein-Barr virus infection and neoplasia
Inborn genetic diseases
MAGT1-related disorder
Inherited Immunodeficiency Diseases
Linear skin defects with multiple congenital anomalies 2
Congenital disorder of glycosylation
type ICC
Key Variants
RS137932369
Conflicting classifications of pathogenicity
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, Inborn genetic diseases
Health Risk
RS140854076
Conflicting classifications of pathogenicity
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked immunodeficiency with magnesium defect
Health Risk
RS141774769
Conflicting classifications of pathogenicity
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, MAGT1-related disorder
Health Risk
RS151126473
Conflicting classifications of pathogenicity
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, Inborn genetic diseases
Health Risk
RS1557213306
Conflicting classifications of pathogenicity
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, Inherited Immunodeficiency Diseases
Health Risk
RS2077095472
Conflicting classifications of pathogenicity
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, Linear skin defects with multiple congenital anomalies 2
Health Risk
RS2149018217
Conflicting classifications of pathogenicity
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, Congenital disorder of glycosylation
Health Risk
RS370329684
Conflicting classifications of pathogenicity
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, Inborn genetic diseases
Health Risk
RS372603691
Conflicting classifications of pathogenicity
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked immunodeficiency with magnesium defect
Health Risk
RS374143885
Conflicting classifications of pathogenicity
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, Inborn genetic diseases
Health Risk
RS374235131
Conflicting classifications of pathogenicity
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, Inborn genetic diseases
Health Risk
RS781882781
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation, type ICC, X-linked immunodeficiency with magnesium defect
Health Risk
All Variants (46)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS137932369 | Health Risk | Conflicting classifications of pathogenicity | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, Inborn genetic diseases |
| RS140854076 | Health Risk | Conflicting classifications of pathogenicity | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked immunodeficiency with magnesium defect |
| RS141774769 | Health Risk | Conflicting classifications of pathogenicity | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, MAGT1-related disorder |
| RS151126473 | Health Risk | Conflicting classifications of pathogenicity | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, Inborn genetic diseases |
| RS1557213306 | Health Risk | Conflicting classifications of pathogenicity | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, Inherited Immunodeficiency Diseases |
| RS2077095472 | Health Risk | Conflicting classifications of pathogenicity | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, Linear skin defects with multiple congenital anomalies 2 |
| RS2149018217 | Health Risk | Conflicting classifications of pathogenicity | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, Congenital disorder of glycosylation |
| RS370329684 | Health Risk | Conflicting classifications of pathogenicity | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, Inborn genetic diseases |
| RS372603691 | Health Risk | Conflicting classifications of pathogenicity | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked immunodeficiency with magnesium defect |
| RS374143885 | Health Risk | Conflicting classifications of pathogenicity | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, Inborn genetic diseases |
| RS374235131 | Health Risk | Conflicting classifications of pathogenicity | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, Inborn genetic diseases |
| RS781882781 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation, type ICC, X-linked immunodeficiency with magnesium defect |
| RS782474570 | Health Risk | Conflicting classifications of pathogenicity | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked immunodeficiency with magnesium defect |
| RS782533209 | Health Risk | Conflicting classifications of pathogenicity | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked immunodeficiency with magnesium defect |
| RS1603359848 | Health Risk | Likely pathogenic | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked immunodeficiency with magnesium defect |
| RS1603361428 | Health Risk | Likely pathogenic | — |
| RS1603361811 | Health Risk | Likely pathogenic | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked immunodeficiency with magnesium defect |
| RS2149017840 | Health Risk | Likely pathogenic | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked immunodeficiency with magnesium defect |
| RS2149031468 | Health Risk | Likely pathogenic | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked immunodeficiency with magnesium defect |
| RS2521993448 | Health Risk | Likely pathogenic | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked immunodeficiency with magnesium defect |
| RS2521993564 | Health Risk | Likely pathogenic | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked immunodeficiency with magnesium defect |
| RS2521996795 | Health Risk | Likely pathogenic | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked immunodeficiency with magnesium defect |
| RS1557217723 | Health Risk | Pathogenic | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked immunodeficiency with magnesium defect |
| RS1569547876 | Health Risk | Pathogenic | Congenital disorder of glycosylation, type ICC, X-linked immunodeficiency with magnesium defect |
| RS1569547878 | Health Risk | Pathogenic | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked immunodeficiency with magnesium defect |
| RS1569548146 | Health Risk | Pathogenic | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked immunodeficiency with magnesium defect |
| RS1603361427 | Health Risk | Pathogenic | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked immunodeficiency with magnesium defect |
| RS1603361606 | Health Risk | Pathogenic | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked immunodeficiency with magnesium defect |
| RS1603361729 | Health Risk | Pathogenic | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked immunodeficiency with magnesium defect |
| RS1603361795 | Health Risk | Pathogenic | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked immunodeficiency with magnesium defect |
| RS1603361804 | Health Risk | Pathogenic | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked immunodeficiency with magnesium defect |
| RS200934080 | Health Risk | Pathogenic | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked immunodeficiency with magnesium defect |
| RS2076895533 | Health Risk | Pathogenic | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked immunodeficiency with magnesium defect |
| RS2076984121 | Health Risk | Pathogenic | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked immunodeficiency with magnesium defect |
| RS2077030784 | Health Risk | Pathogenic | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked immunodeficiency with magnesium defect |
| RS2149008270 | Health Risk | Pathogenic | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked immunodeficiency with magnesium defect |
| RS2149017828 | Health Risk | Pathogenic | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked immunodeficiency with magnesium defect |
| RS2149017839 | Health Risk | Pathogenic | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked immunodeficiency with magnesium defect |
| RS2149018410 | Health Risk | Pathogenic | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked immunodeficiency with magnesium defect |
| RS2149018425 | Health Risk | Pathogenic | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked immunodeficiency with magnesium defect |
| RS2149018434 | Health Risk | Pathogenic | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked immunodeficiency with magnesium defect |
| RS2521993517 | Health Risk | Pathogenic | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked immunodeficiency with magnesium defect |
| RS2521995500 | Health Risk | Pathogenic | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked immunodeficiency with magnesium defect |
| RS373260156 | Health Risk | Pathogenic | Congenital disorder of glycosylation, type ICC, Congenital disorder of glycosylation |
| RS387906724 | Health Risk | Pathogenic | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked immunodeficiency with magnesium defect |
| RS879989957 | Health Risk | Pathogenic | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked immunodeficiency with magnesium defect |