WDR19
Gene name: WD repeat domain 19OMIM ID: 608151
Chromosome location: 4p14
Mutations
| Disease/Phenotype | Nephronophthisis 13 |
|---|---|
| Reference transcript | NM_025132.3 |
| DNA Change | c.1034T>G |
| A.A. Change | p.Val345Gly |
| Exon/Intron | exon 11 |
| Mutation Type | substitution |
| Reference | Bredrup C, Saunier S, Oud MM, Fiskerstrand T, Hoischen A, Brackman D, Leh SM, Midtb? M, Filhol E, Bole-Feysot C, Nitschk? P, Gilissen C, Haugen OH, Sanders JS, Stolte-Dijkstra I, Mans DA, Steenbergen EJ, Hamel BC, Matignon M, Pfundt R, Jeanpierre C, Boman H, R?dahl E, Veltman JA, Knappskog PM, Knoers NV, Roepman R, Arts HH.Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am J Hum Genet. 2011 Nov 11;89(5):634-43. |
| Disease/Phenotype | Nephronophthisis 13 |
|---|---|
| Reference transcript | NM_025132.3 |
| DNA Change | c.3068dupA |
| A.A. Change | p.Tyr1023X |
| Exon/Intron | exon 27 |
| Mutation Type | duplication |
| Reference | Bredrup C, Saunier S, Oud MM, Fiskerstrand T, Hoischen A, Brackman D, Leh SM, Midtb? M, Filhol E, Bole-Feysot C, Nitschk? P, Gilissen C, Haugen OH, Sanders JS, Stolte-Dijkstra I, Mans DA, Steenbergen EJ, Hamel BC, Matignon M, Pfundt R, Jeanpierre C, Boman H, R?dahl E, Veltman JA, Knappskog PM, Knoers NV, Roepman R, Arts HH.Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am J Hum Genet. 2011 Nov 11;89(5):634-43. |