AGRN Chromosome 1
Agrin
Upload your DNA to see your personal genotypes for variants in AGRN.
What This Gene Does
This gene encodes one of several proteins that are critical in the development of the neuromuscular junction (NMJ), as identified in mouse knock-out studies. The encoded protein contains several laminin G, Kazal type serine protease inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur to add glycosaminoglycans and disulfide bonds. In one family with congenital myasthenic syndrome affecting limb-girdle muscles, a mutation in this gene was found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]
Gene Info
Gene Group
Proteoglycans
Locus Type
gene with protein product
Location
1p36.33
Ensembl
ENSG00000188157
Associated Conditions (14)
Congenital myasthenic syndrome 8
Inborn genetic diseases
AGRN-related disorder
Ovarian serous cystadenocarcinoma
Uterine carcinosarcoma
Cervical cancer
Uterine corpus endometrial carcinoma
See cases
Neurodevelopmental disorder
Congenital myasthenic syndrome
Nonpapillary renal cell carcinoma
Lung cancer
Abnormality of the musculature
Presynaptic congenital myasthenic syndrome
Key Variants
RS116586548
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 8, Inborn genetic diseases, Congenital myasthenic syndrome 8
Health Risk
RS1166737018
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 8, Inborn genetic diseases, Congenital myasthenic syndrome 8
Health Risk
RS116836855
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 8, Inborn genetic diseases, AGRN-related disorder
Health Risk
RS1170138989
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 8, Inborn genetic diseases, Congenital myasthenic syndrome 8
Health Risk
RS1214623286
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 8, Inborn genetic diseases, Congenital myasthenic syndrome 8
Health Risk
RS1295689490
Conflicting classifications of pathogenicity
Inborn genetic diseases, Congenital myasthenic syndrome 8, Inborn genetic diseases
Health Risk
RS141178720
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 8, Inborn genetic diseases, Congenital myasthenic syndrome 8
Health Risk
RS141603403
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
Health Risk
RS142143178
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
Health Risk
RS142620337
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 8, AGRN-related disorder, Congenital myasthenic syndrome 8
Health Risk
RS144164397
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 8, AGRN-related disorder, Ovarian serous cystadenocarcinoma
Health Risk
RS144245019
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
Health Risk
All Variants (120)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS766962416 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8 |
| RS768527925 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 8, AGRN-related disorder, Inborn genetic diseases |
| RS769494139 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 8, AGRN-related disorder, Congenital myasthenic syndrome 8 |
| RS769667244 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 8, Inborn genetic diseases, Congenital myasthenic syndrome 8 |
| RS770876851 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 8, Inborn genetic diseases, Congenital myasthenic syndrome 8 |
| RS771364268 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 8, AGRN-related disorder, Congenital myasthenic syndrome 8 |
| RS771414620 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 8, Inborn genetic diseases, Congenital myasthenic syndrome 8 |
| RS772811721 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 8, Inborn genetic diseases, Congenital myasthenic syndrome 8 |
| RS774881136 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 8, Inborn genetic diseases, Congenital myasthenic syndrome 8 |
| RS775442981 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 8, Inborn genetic diseases, Congenital myasthenic syndrome 8 |
| RS777269140 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 8, Inborn genetic diseases, Congenital myasthenic syndrome 8 |
| RS779170859 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 8, Inborn genetic diseases, AGRN-related disorder |
| RS779516004 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8 |
| RS780013869 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 8, Inborn genetic diseases, Congenital myasthenic syndrome 8 |
| RS780180385 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 8, Inborn genetic diseases, Congenital myasthenic syndrome 8 |
| RS780205618 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 8, Inborn genetic diseases, Congenital myasthenic syndrome 8 |
| RS947705663 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 8, Inborn genetic diseases, Congenital myasthenic syndrome 8 |
| RS951245406 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 8, Inborn genetic diseases, Congenital myasthenic syndrome 8 |
| RS1167765853 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS1332051427 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8 |
| RS1553178276 | Health Risk | Likely pathogenic | — |
| RS1557721600 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8 |
| RS1570242061 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8 |
| RS1644932281 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8 |
| RS2100682020 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8 |
| RS2522691806 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8 |
| RS2522742297 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8 |
| RS2522799460 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8 |
| RS532386334 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8 |
| RS587777298 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 8, Congenital myasthenic syndrome, Congenital myasthenic syndrome 8 |
| RS746488526 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 8, Nonpapillary renal cell carcinoma, Lung cancer |
| RS750176911 | Health Risk | Likely pathogenic | — |
| RS753588255 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8 |
| RS756623659 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome, Congenital myasthenic syndrome 8, Congenital myasthenic syndrome |
| RS759853904 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8 |
| RS771677426 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8 |
| RS1239736447 | Health Risk | Pathogenic | Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8 |
| RS1333143280 | Health Risk | Pathogenic | Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8 |
| RS1367262797 | Health Risk | Pathogenic | Congenital myasthenic syndrome 8, Neurodevelopmental disorder, Congenital myasthenic syndrome 8 |
| RS1377283211 | Health Risk | Pathogenic | Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8 |
| RS1410313655 | Health Risk | Pathogenic | Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8 |
| RS1425913203 | Health Risk | Pathogenic | Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8 |
| RS1557700705 | Health Risk | Pathogenic | Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8 |
| RS1557702487 | Health Risk | Pathogenic | Abnormality of the musculature, Abnormality of the musculature |
| RS1570193864 | Health Risk | Pathogenic | Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8 |
| RS1570195582 | Health Risk | Pathogenic | Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8 |
| RS1644929836 | Health Risk | Pathogenic | Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8 |
| RS1645065317 | Health Risk | Pathogenic | Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8 |
| RS1645159594 | Health Risk | Pathogenic | Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8 |
| RS199476396 | Health Risk | Pathogenic | Congenital myasthenic syndrome 8, Congenital myasthenic syndrome, Congenital myasthenic syndrome 8 |