PKD1 c.11345_11347del ;(p.D3782del)

Variant ID: 16-2142111-ACGT-A

NM_001009944.2(PKD1):c.11345_11347del;(p.D3782del)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Effect of tolvaptan on renal involvement in patients with autosomal dominant polycystic kidney disease according to different gene mutations.

Clinical And Experimental Nephrology
Moriyama, Tomofumi T; Nakayama, Yosuke Y; Soejima, Mikiko M; Yokota, Yunosuke Y; Ota, Kanji K; Ito, Sakuya S; Kodama, Goh G; Nakamura, Nao N; Kurokawa, Yuka Y; Yano, Junko J; Ueda, Utako U; Takamiya, Yoshimi Y; Kaida, Yusuke Y; Hazama, Takuma T; Shibata, Ryo R; Koda, Yoshiro Y; Fukami, Kei K
Publication Date: 2021-03

Variant appearance in text: PKD1: D3782del
PubMed Link: 33141305
Variant Present in the following documents:
  • Main text
  • 10157_2020_Article_1988.pdf
View BVdb publication page



PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease.

Scientific Reports
Ali, Hamad H; Al-Mulla, Fahd F; Hussain, Naser N; Naim, Medhat M; Asbeutah, Akram M AM; AlSahow, Ali A; Abu-Farha, Mohamed M; Abubaker, Jehad J; Al Madhoun, Ashraf A; Ahmad, Sajjad S; Harris, Peter C PC
Publication Date: 2019-03-11

Variant appearance in text: PKD1: D3782del
PubMed Link: 30858458
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_40761.pdf
View BVdb publication page