PKD1 c.3914_3923del ;(p.I1305Sfs*38)

Variant ID: 16-2161244-CTGCGTGGGGA-C

NM_001009944.2(PKD1):c.3914_3923del;(p.I1305Sfs*38)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Enhanced MCP-1 Release in Early Autosomal Dominant Polycystic Kidney Disease.

Kidney International Reports
Janssens, Peter P; Decuypere, Jean-Paul JP; De Rechter, Stéphanie S; Breysem, Luc L; Van Giel, Dorien D; Billen, Jaak J; Hindryckx, An A; De Catte, Luc L; Baldewijns, Marcella M; Claes, Kathleen B M KBM; Wissing, Karl M KM; Devriendt, Koen K; Bammens, Bert B; Meyts, Isabelle I; Torres, Vicente E VE; Vennekens, Rudi R; Mekahli, Djalila D
Publication Date: 2021-06

Variant appearance in text: PKD1: 3914_3923del; Ile1305Serfs*38
PubMed Link: 34169210
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.

The Journal Of Molecular Diagnostics : Jmd
Tan, Adrian Y AY; Michaeel, Alber A; Liu, Genyan G; Elemento, Olivier O; Blumenfeld, Jon J; Donahue, Stephanie S; Parker, Tom T; Levine, Daniel D; Rennert, Hanna H
Publication Date: 2014-03

Variant appearance in text: PKD1: 3914_3923del
PubMed Link: 24374109
Variant Present in the following documents:
  • Main text
View BVdb publication page