SLC2A10 Chromosome 20
Solute carrier family 2 member 10
Upload your DNA to see your personal genotypes for variants in SLC2A10.
What This Gene Does
This gene encodes a member of the class III facilitative glucose transporter family. The encoded protein plays a role in regulation of glucose homeostasis. Mutations in this gene have been associated with arterial tortuosity syndrome.[provided by RefSeq, Dec 2009]
Gene Info
Gene Group
Solute carrier family 2
Locus Type
gene with protein product
Location
20q13.12
Ensembl
ENSG00000197496
Associated Conditions (12)
Arterial tortuosity syndrome
Familial thoracic aortic aneurysm and aortic dissection
SLC2A10-related disorder
Familial aortopathy
Aortic aneurysm
familial thoracic 2
Cardiovascular phenotype
Malignant tumor of urinary bladder
Thoracic aortic aneurysm or dissection
Thyroid cancer
nonmedullary
1
Key Variants
RS117587497
Conflicting classifications of pathogenicity
Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection, Arterial tortuosity syndrome
Health Risk
RS1301992983
Conflicting classifications of pathogenicity
Arterial tortuosity syndrome, Arterial tortuosity syndrome
Health Risk
RS1355346296
Conflicting classifications of pathogenicity
Arterial tortuosity syndrome, Arterial tortuosity syndrome
Health Risk
RS1367206658
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS138245283
Conflicting classifications of pathogenicity
Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection, Arterial tortuosity syndrome
Health Risk
RS139117495
Conflicting classifications of pathogenicity
Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection, Arterial tortuosity syndrome
Health Risk
RS139932041
Conflicting classifications of pathogenicity
Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection, Arterial tortuosity syndrome
Health Risk
RS142106322
Conflicting classifications of pathogenicity
Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection, Arterial tortuosity syndrome
Health Risk
RS142402955
Conflicting classifications of pathogenicity
Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection, Arterial tortuosity syndrome
Health Risk
RS142639587
Conflicting classifications of pathogenicity
Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection, Arterial tortuosity syndrome
Health Risk
RS143301610
Conflicting classifications of pathogenicity
Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection, Arterial tortuosity syndrome
Health Risk
RS144095826
Conflicting classifications of pathogenicity
Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection, Arterial tortuosity syndrome
Health Risk
All Variants (93)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS777604168 | Health Risk | Conflicting classifications of pathogenicity | Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection, Arterial tortuosity syndrome |
| RS886056723 | Health Risk | Conflicting classifications of pathogenicity | Arterial tortuosity syndrome, Arterial tortuosity syndrome |
| RS886056727 | Health Risk | Conflicting classifications of pathogenicity | Arterial tortuosity syndrome, Arterial tortuosity syndrome |
| RS1434246419 | Health Risk | Likely pathogenic | Arterial tortuosity syndrome, Arterial tortuosity syndrome |
| RS1979801533 | Health Risk | Likely pathogenic | Arterial tortuosity syndrome, Arterial tortuosity syndrome |
| RS1980007276 | Health Risk | Likely pathogenic | Arterial tortuosity syndrome, Arterial tortuosity syndrome |
| RS2515585891 | Health Risk | Likely pathogenic | Arterial tortuosity syndrome, Arterial tortuosity syndrome |
| RS2515589258 | Health Risk | Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS2515594540 | Health Risk | Likely pathogenic | Arterial tortuosity syndrome, Arterial tortuosity syndrome |
| RS376346077 | Health Risk | Likely pathogenic | Arterial tortuosity syndrome, Arterial tortuosity syndrome, Familial aortopathy |
| RS753723351 | Health Risk | Likely pathogenic | Arterial tortuosity syndrome, Arterial tortuosity syndrome |
| RS768848335 | Health Risk | Likely pathogenic | Arterial tortuosity syndrome, Malignant tumor of urinary bladder, Arterial tortuosity syndrome |
| RS770701918 | Health Risk | Likely pathogenic | Arterial tortuosity syndrome, Arterial tortuosity syndrome |
| RS886056725 | Health Risk | Likely pathogenic | SLC2A10-related disorder, SLC2A10-related disorder |
| RS1064796832 | Health Risk | Pathogenic | — |
| RS1474105130 | Health Risk | Pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1979855248 | Health Risk | Pathogenic | Arterial tortuosity syndrome, Arterial tortuosity syndrome |
| RS2123045055 | Health Risk | Pathogenic | Arterial tortuosity syndrome, Arterial tortuosity syndrome |
| RS2123045274 | Health Risk | Pathogenic | Arterial tortuosity syndrome, Arterial tortuosity syndrome |
| RS2123062030 | Health Risk | Pathogenic | Arterial tortuosity syndrome, Arterial tortuosity syndrome |
| RS2515585670 | Health Risk | Pathogenic | Arterial tortuosity syndrome, Arterial tortuosity syndrome |
| RS2515587114 | Health Risk | Pathogenic | Arterial tortuosity syndrome, Arterial tortuosity syndrome |
| RS2515587479 | Health Risk | Pathogenic | Arterial tortuosity syndrome, Arterial tortuosity syndrome |
| RS587776599 | Health Risk | Pathogenic | Arterial tortuosity syndrome, Arterial tortuosity syndrome |
| RS587776600 | Health Risk | Pathogenic | Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection, SLC2A10-related disorder |
| RS756457861 | Health Risk | Pathogenic | Arterial tortuosity syndrome, Cardiovascular phenotype, Thoracic aortic aneurysm or dissection |
| RS771028960 | Health Risk | Pathogenic | Arterial tortuosity syndrome, Cardiovascular phenotype, Arterial tortuosity syndrome |
| RS80358229 | Health Risk | Pathogenic | Arterial tortuosity syndrome, Arterial tortuosity syndrome |
| RS864309478 | Health Risk | Pathogenic | Arterial tortuosity syndrome, Arterial tortuosity syndrome |
| RS864309481 | Health Risk | Pathogenic | Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection, Arterial tortuosity syndrome |
| RS1015798796 | Health Risk | Pathogenic/Likely pathogenic | Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection, Arterial tortuosity syndrome |
| RS121908172 | Health Risk | Pathogenic/Likely pathogenic | Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection, Arterial tortuosity syndrome |
| RS121908173 | Health Risk | Pathogenic/Likely pathogenic | Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection, Arterial tortuosity syndrome |
| RS1341502906 | Health Risk | Pathogenic/Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS146579504 | Health Risk | Pathogenic/Likely pathogenic | Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection, Arterial tortuosity syndrome |
| RS2123045187 | Health Risk | Pathogenic/Likely pathogenic | Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection, Arterial tortuosity syndrome |
| RS370547023 | Health Risk | Pathogenic/Likely pathogenic | Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection, Arterial tortuosity syndrome |
| RS572620317 | Health Risk | Pathogenic/Likely pathogenic | Arterial tortuosity syndrome, Arterial tortuosity syndrome |
| RS761721442 | Health Risk | Pathogenic/Likely pathogenic | Arterial tortuosity syndrome, Thyroid cancer, nonmedullary |
| RS763220502 | Health Risk | Pathogenic/Likely pathogenic | Arterial tortuosity syndrome, Thoracic aortic aneurysm or dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS767864243 | Health Risk | Pathogenic/Likely pathogenic | Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection, Familial aortopathy |
| RS771702107 | Health Risk | Pathogenic/Likely pathogenic | Arterial tortuosity syndrome, Familial aortopathy, Arterial tortuosity syndrome |
| RS80358230 | Health Risk | Pathogenic/Likely pathogenic | Arterial tortuosity syndrome, SLC2A10-related disorder, Familial aortopathy |