SLC2A10
Gene name: solute carrier family 2 (facilitated glucose transporter), member 10OMIM ID: 606145
Chromosome location: 20q13.1
Mutations
| Disease/Phenotype | Arterial tortuosity syndrome |
|---|---|
| Reference transcript | NM_030777.3 |
| DNA Change | c.510G>A |
| A.A. Change | p.Trp170Stop |
| Exon/Intron | exon 2 |
| Mutation Type | substitution |
| Reference | Coucke PJ, Willaert A, Wessels MW, Callewaert B, Zoppi N, De Backer J, Fox JE, Mancini GM, Kambouris M, Gardella R, Facchetti F, Willems PJ, Forsyth R, Dietz HC, Barlati S, Colombi M, Loeys B, De Paepe A.Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Genet. 2006 Apr;38(4):452-7. |
| Disease/Phenotype | Arterial tortuosity syndrome |
|---|---|
| Reference transcript | NM_030777.3 |
| DNA Change | c.961delG |
| A.A. Change | p.Val321CysfsX71 |
| Exon/Intron | exon 2 |
| Mutation Type | deletion |
| Reference | Coucke PJ, Willaert A, Wessels MW, Callewaert B, Zoppi N, De Backer J, Fox JE, Mancini GM, Kambouris M, Gardella R, Facchetti F, Willems PJ, Forsyth R, Dietz HC, Barlati S, Colombi M, Loeys B, De Paepe A.Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Genet. 2006 Apr;38(4):452-7. |