FLAD1 Chromosome 1
Flavin adenine dinucleotide synthetase 1
Upload your DNA to see your personal genotypes for variants in FLAD1.
What This Gene Does
This gene encodes the enzyme that catalyzes adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Flavoproteins
Locus Type
gene with protein product
Location
1q21.3
Ensembl
ENSG00000160688
Associated Conditions (6)
Myopathy with abnormal lipid metabolism
FLAD1-related disorder
Cholangiocarcinoma
Ovarian serous cystadenocarcinoma
Inborn genetic diseases
Multiple acyl-CoA dehydrogenase deficiency
Key Variants
RS140409443
Conflicting classifications of pathogenicity
Health Risk
RS142224458
Conflicting classifications of pathogenicity
Health Risk
RS144986636
Conflicting classifications of pathogenicity
Myopathy with abnormal lipid metabolism, Myopathy with abnormal lipid metabolism
Health Risk
RS146501091
Conflicting classifications of pathogenicity
FLAD1-related disorder, FLAD1-related disorder
Health Risk
RS146865554
Conflicting classifications of pathogenicity
Health Risk
RS150372864
Conflicting classifications of pathogenicity
Cholangiocarcinoma, Ovarian serous cystadenocarcinoma, Cholangiocarcinoma
Health Risk
RS2232633
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS571357479
Conflicting classifications of pathogenicity
FLAD1-related disorder, Myopathy with abnormal lipid metabolism, FLAD1-related disorder
Health Risk
RS1170313629
Likely pathogenic
Health Risk
RS1323688594
Likely pathogenic
Health Risk
RS1571488364
Likely pathogenic
Health Risk
RS1657717722
Likely pathogenic
Health Risk
All Variants (32)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140409443 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS142224458 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144986636 | Health Risk | Conflicting classifications of pathogenicity | Myopathy with abnormal lipid metabolism, Myopathy with abnormal lipid metabolism |
| RS146501091 | Health Risk | Conflicting classifications of pathogenicity | FLAD1-related disorder, FLAD1-related disorder |
| RS146865554 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150372864 | Health Risk | Conflicting classifications of pathogenicity | Cholangiocarcinoma, Ovarian serous cystadenocarcinoma, Cholangiocarcinoma |
| RS2232633 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS571357479 | Health Risk | Conflicting classifications of pathogenicity | FLAD1-related disorder, Myopathy with abnormal lipid metabolism, FLAD1-related disorder |
| RS1170313629 | Health Risk | Likely pathogenic | — |
| RS1323688594 | Health Risk | Likely pathogenic | — |
| RS1571488364 | Health Risk | Likely pathogenic | — |
| RS1657717722 | Health Risk | Likely pathogenic | — |
| RS1657935515 | Health Risk | Likely pathogenic | — |
| RS2525791495 | Health Risk | Likely pathogenic | — |
| RS375023842 | Health Risk | Likely pathogenic | — |
| RS1242152481 | Health Risk | Pathogenic | — |
| RS1339685640 | Health Risk | Pathogenic | — |
| RS1466009259 | Health Risk | Pathogenic | — |
| RS1491220784 | Health Risk | Pathogenic | — |
| RS1657723514 | Health Risk | Pathogenic | Myopathy with abnormal lipid metabolism, Myopathy with abnormal lipid metabolism |
| RS1657810994 | Health Risk | Pathogenic | — |
| RS199979286 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Myopathy with abnormal lipid metabolism, Multiple acyl-CoA dehydrogenase deficiency |
| RS755718337 | Health Risk | Pathogenic | — |
| RS876661309 | Health Risk | Pathogenic | Myopathy with abnormal lipid metabolism, Multiple acyl-CoA dehydrogenase deficiency, Myopathy with abnormal lipid metabolism |
| RS876661310 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Myopathy with abnormal lipid metabolism, Multiple acyl-CoA dehydrogenase deficiency |
| RS876661311 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Myopathy with abnormal lipid metabolism, Multiple acyl-CoA dehydrogenase deficiency |
| RS876661312 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Myopathy with abnormal lipid metabolism, Multiple acyl-CoA dehydrogenase deficiency |
| RS876661313 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Myopathy with abnormal lipid metabolism, Multiple acyl-CoA dehydrogenase deficiency |
| RS876661314 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS876661315 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1057518160 | Health Risk | Pathogenic/Likely pathogenic | Myopathy with abnormal lipid metabolism, Myopathy with abnormal lipid metabolism |
| RS771466122 | Health Risk | Pathogenic/Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Myopathy with abnormal lipid metabolism, FLAD1-related disorder |