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

PKD1

Gene name: polycystic kidney disease 1 (autosomal dominant)
OMIM ID: 601313
Chromosome location: 16p13.3

Mutations

Disease/PhenotypePolycystic kidney disease, adult type I
Reference transcriptNM_001009944.2
DNA Changec.1281_1283delGGC
A.A. Changep.Ala428del
Exon/Intronexon 6
Mutation Typedeletion
ReferenceCnossen WR, Te Morsche RH, Hoischen A, Gilissen C, Venselaar H, Mehdi S, Bergmann C, Losekoot M, Breuning MH, Peters DJ, Veltman JA, Drenth JP. LRP5 variants may contribute to ADPKD.
Eur J Hum Genet. 2015 Apr 29.
Disease/PhenotypePolycystic kidney disease, adult type I
Reference transcriptNM_001009944.2
DNA Changec.3133G>C
A.A. Changep.Val1045Leu
Exon/Intronexon 13
Mutation Typesubstitution
ReferenceCnossen WR, Te Morsche RH, Hoischen A, Gilissen C, Venselaar H, Mehdi S, Bergmann C, Losekoot M, Breuning MH, Peters DJ, Veltman JA, Drenth JP. LRP5 variants may contribute to ADPKD.
Eur J Hum Genet. 2015 Apr 29.