Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Nephronophthisis 13

OMIM:614377
Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities


Mutations

Gene SymbolWDR19
Reference transcriptNM_025132.3
DNA Changec.3068dupA
A.A. Changep.Tyr1023X
Exon/Intronexon 27
Mutation Typeduplication
ReferenceBredrup 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.
Gene SymbolWDR19
Reference transcriptNM_025132.3
DNA Changec.1034T>G
A.A. Changep.Val345Gly
Exon/Intronexon 11
Mutation Typesubstitution
ReferenceBredrup 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.