JAG1 Chromosome 20
Jagged canonical Notch ligand 1
Upload your DNA to see your personal genotypes for variants in JAG1.
What This Gene Does
The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein. Human jagged 1 is the ligand for the receptor notch 1, the latter is involved in signaling processes. Mutations that alter the jagged 1 protein cause Alagille syndrome. Jagged 1 signalling through notch 1 has also been shown to play a role in hematopoiesis. [provided by RefSeq, Nov 2019]
Gene Info
Gene Group
"CD molecules|MicroRNA protein coding host genes|Canonical Notch ligands"
Locus Type
gene with protein product
Location
20p12.2
Ensembl
ENSG00000101384
Associated Conditions (29)
Alagille syndrome due to a JAG1 point mutation
Deafness
congenital heart defects
and posterior embryotoxon
Charcot-Marie-Tooth disease
axonal
Type 2HH
Tetralogy of Fallot
JAG1-related disorder
Cardiovascular phenotype
Isolated Nonsyndromic Congenital Heart Disease
Aortic dilatation
Scoliosis
Pes planus
Arteriohepatic dysplasia
Familial cancer of breast
Conotruncal heart malformations
Retinal dystrophy
See cases
Cervical cancer
+9 more conditions
Key Variants
RS1009422076
Conflicting classifications of pathogenicity
Alagille syndrome due to a JAG1 point mutation, Deafness, congenital heart defects
Health Risk
RS1026004197
Conflicting classifications of pathogenicity
Alagille syndrome due to a JAG1 point mutation, Deafness, congenital heart defects
Health Risk
RS1044765003
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
Health Risk
RS10485741
Conflicting classifications of pathogenicity
Tetralogy of Fallot, Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation
Health Risk
RS1051571820
Conflicting classifications of pathogenicity
Alagille syndrome due to a JAG1 point mutation, Charcot-Marie-Tooth disease, axonal
Health Risk
RS111706668
Conflicting classifications of pathogenicity
Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot, Deafness
Health Risk
RS1180418350
Conflicting classifications of pathogenicity
Isolated Nonsyndromic Congenital Heart Disease, Cardiovascular phenotype, Isolated Nonsyndromic Congenital Heart Disease
Health Risk
RS1211288472
Conflicting classifications of pathogenicity
Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation
Health Risk
RS1212026437
Conflicting classifications of pathogenicity
Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation
Health Risk
RS1212837838
Conflicting classifications of pathogenicity
Isolated Nonsyndromic Congenital Heart Disease, Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
Health Risk
RS1227203387
Conflicting classifications of pathogenicity
Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation
Health Risk
RS1237367300
Conflicting classifications of pathogenicity
Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
Health Risk
All Variants (580)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1289016419 | Health Risk | Pathogenic | Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation |
| RS1437309558 | Health Risk | Pathogenic | Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation |
| RS1555827650 | Health Risk | Pathogenic | Arteriohepatic dysplasia, Arteriohepatic dysplasia |
| RS1555827653 | Health Risk | Pathogenic | Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation |
| RS1555827717 | Health Risk | Pathogenic | — |
| RS1555827729 | Health Risk | Pathogenic | Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation |
| RS1555827760 | Health Risk | Pathogenic | — |
| RS1555827769 | Health Risk | Pathogenic | Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation |
| RS1555827789 | Health Risk | Pathogenic | Atypical coarctation of aorta, Alagille syndrome due to a JAG1 point mutation, Atypical coarctation of aorta |
| RS1555827790 | Health Risk | Pathogenic | — |
| RS1555828173 | Health Risk | Pathogenic | Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation |
| RS1555828209 | Health Risk | Pathogenic | Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation |
| RS1555828250 | Health Risk | Pathogenic | — |
| RS1555828321 | Health Risk | Pathogenic | Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation |
| RS1555828546 | Health Risk | Pathogenic | Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation, JAG1-related disorder |
| RS1555828577 | Health Risk | Pathogenic | — |
| RS1555828640 | Health Risk | Pathogenic | — |
| RS1555828646 | Health Risk | Pathogenic | — |
| RS1555828652 | Health Risk | Pathogenic | — |
| RS1555828721 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS1555828770 | Health Risk | Pathogenic | — |
| RS1555828843 | Health Risk | Pathogenic | Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation |
| RS1555829037 | Health Risk | Pathogenic | Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation |
| RS1555829039 | Health Risk | Pathogenic | — |
| RS1555830919 | Health Risk | Pathogenic | — |
| RS1555830922 | Health Risk | Pathogenic | — |
| RS1555830929 | Health Risk | Pathogenic | Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation |
| RS1568791022 | Health Risk | Pathogenic | — |
| RS1568791393 | Health Risk | Pathogenic | — |
| RS1568791920 | Health Risk | Pathogenic | Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation |
| RS1568792125 | Health Risk | Pathogenic | — |
| RS1568792286 | Health Risk | Pathogenic | Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation |
| RS1568792344 | Health Risk | Pathogenic | — |
| RS1568793232 | Health Risk | Pathogenic | — |
| RS1568793265 | Health Risk | Pathogenic | — |
| RS1568793670 | Health Risk | Pathogenic | — |
| RS1568794159 | Health Risk | Pathogenic | — |
| RS1568795820 | Health Risk | Pathogenic | Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation |
| RS1568796158 | Health Risk | Pathogenic | — |
| RS1568796241 | Health Risk | Pathogenic | Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation |
| RS1568796298 | Health Risk | Pathogenic | — |
| RS1568796883 | Health Risk | Pathogenic | Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation |
| RS1568798024 | Health Risk | Pathogenic | — |
| RS1568798289 | Health Risk | Pathogenic | — |
| RS1568801068 | Health Risk | Pathogenic | Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation |
| RS1568801096 | Health Risk | Pathogenic | — |
| RS1568807044 | Health Risk | Pathogenic | — |
| RS1568807161 | Health Risk | Pathogenic | Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation |
| RS1568807463 | Health Risk | Pathogenic | — |
| RS1568807483 | Health Risk | Pathogenic | — |