PKD1 c.3133G>A ;(p.V1045M)

Variant ID: 16-2162817-C-T

NM_001009944.2(PKD1):c.3133G>A;(p.V1045M)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Autosomal Dominant Polycystic Kidney Disease: Presence of Hypomorphic Alleles in PKD1 Gene.

Indian Journal Of Nephrology
Pandita, S S; Khullar, D D; Saxena, R R; Verma, I C IC
Publication Date: 2018

Variant appearance in text: PKD1: Val1045Met
PubMed Link: 30647506
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.

Journal Of The American Society Of Nephrology : Jasn
Cornec-Le Gall, Emilie E; Torres, Vicente E VE; Harris, Peter C PC
Publication Date: 2018-01

Variant appearance in text: PKD1: Val1045Met
PubMed Link: 29038287
Variant Present in the following documents:
  • Main text
View BVdb publication page



LRP5 variants may contribute to ADPKD.

European Journal Of Human Genetics : Ejhg
Cnossen, Wybrich R WR; te Morsche, René H M RH; Hoischen, Alexander A; Gilissen, Christian C; Venselaar, Hanka H; Mehdi, Soufi S; Bergmann, Carsten C; Losekoot, Monique M; Breuning, Martijn H MH; Peters, Dorien J M DJ; Veltman, Joris A JA; Drenth, Joost P H JP
Publication Date: 2016-02

Variant appearance in text: PKD1: 3133G>A; Val1045Met; rs724159822
PubMed Link: 25920554
Variant Present in the following documents:
  • Main text
View BVdb publication page



Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.

Journal Of The American Society Of Nephrology : Jasn
Vujic, Mihailo M; Heyer, Christina M CM; Ars, Elisabet E; Hopp, Katharina K; Markoff, Arseni A; Orndal, Charlotte C; Rudenhed, Bengt B; Nasr, Samih H SH; Torres, Vicente E VE; Torra, Roser R; Bogdanova, Nadja N; Harris, Peter C PC
Publication Date: 2010-07

Variant appearance in text: PKD1: V1045M
PubMed Link: 20558538
Variant Present in the following documents:
  • Main text
View BVdb publication page