AGK Chromosome 7
Acylglycerol kinase
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What This Gene Does
The protein encoded by this gene is a mitochondrial membrane protein involved in lipid and glycerolipid metabolism. The encoded protein is a lipid kinase that catalyzes the formation of phosphatidic and lysophosphatidic acids. Defects in this gene have been associated with mitochondrial DNA depletion syndrome 10. [provided by RefSeq, Feb 2012]
Associated Conditions (11)
Cataract 38
Sengers syndrome
Inborn genetic diseases
AGK-related disorder
Ovarian serous cystadenocarcinoma
Mitochondrial disease
Thyroid cancer
nonmedullary
1
Trichohepatoenteric syndrome 1
Autosomal recessive AGK-related phenotype
Key Variants
RS138656216
Conflicting classifications of pathogenicity
Cataract 38, Sengers syndrome, Inborn genetic diseases
Health Risk
RS139547145
Conflicting classifications of pathogenicity
Sengers syndrome, Cataract 38, Sengers syndrome
Health Risk
RS142069429
Conflicting classifications of pathogenicity
Cataract 38, Sengers syndrome, Cataract 38
Health Risk
RS142779190
Conflicting classifications of pathogenicity
Cataract 38, Sengers syndrome, Inborn genetic diseases
Health Risk
RS150732826
Conflicting classifications of pathogenicity
Cataract 38, Sengers syndrome, Cataract 38
Health Risk
RS199778260
Conflicting classifications of pathogenicity
Inborn genetic diseases, Sengers syndrome, Cataract 38
Health Risk
RS199977261
Conflicting classifications of pathogenicity
Sengers syndrome, Cataract 38, AGK-related disorder
Health Risk
RS200973491
Conflicting classifications of pathogenicity
Cataract 38, Sengers syndrome, Ovarian serous cystadenocarcinoma
Health Risk
RS201052151
Conflicting classifications of pathogenicity
Cataract 38, Sengers syndrome, Cataract 38
Health Risk
RS202069684
Conflicting classifications of pathogenicity
Sengers syndrome, Cataract 38, Sengers syndrome
Health Risk
RS35269563
Conflicting classifications of pathogenicity
Sengers syndrome, Cataract 38, Inborn genetic diseases
Health Risk
RS367844999
Conflicting classifications of pathogenicity
Cataract 38, Mitochondrial disease, Sengers syndrome
Health Risk
All Variants (64)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS387907025 | Health Risk | Pathogenic | Sengers syndrome, Cataract 38, Sengers syndrome |
| RS542547163 | Health Risk | Pathogenic | Sengers syndrome, Sengers syndrome |
| RS746709222 | Health Risk | Pathogenic | Sengers syndrome, Trichohepatoenteric syndrome 1, Cataract 38 |
| RS765471424 | Health Risk | Pathogenic | Sengers syndrome, Cataract 38, AGK-related disorder |
| RS771945804 | Health Risk | Pathogenic | Sengers syndrome, Sengers syndrome, Cataract 38 |
| RS777096695 | Health Risk | Pathogenic | Sengers syndrome, Cataract 38, Inborn genetic diseases |
| RS778049466 | Health Risk | Pathogenic | Sengers syndrome, Sengers syndrome |
| RS863223895 | Health Risk | Pathogenic | Sengers syndrome, Sengers syndrome |
| RS868431923 | Health Risk | Pathogenic | Sengers syndrome, Sengers syndrome |
| RS886041835 | Health Risk | Pathogenic | — |
| RS1228071168 | Health Risk | Pathogenic/Likely pathogenic | Sengers syndrome, Cataract 38, Sengers syndrome |
| RS1554405928 | Health Risk | Pathogenic/Likely pathogenic | Cataract 38, Sengers syndrome, Cataract 38 |
| RS766413410 | Health Risk | Pathogenic/Likely pathogenic | Cataract 38, Sengers syndrome, Autosomal recessive AGK-related phenotype |
| RS886041491 | Health Risk | Pathogenic/Likely pathogenic | Sengers syndrome, Cataract 38, Sengers syndrome |