PKD1 c.9859_9861del ;(p.L3287del)

Variant ID: 16-2149923-TGAG-T

NM_001009944.2(PKD1):c.9859_9861del;(p.L3287del)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care.

Kidney International Reports
Lindemann, Christoph Heinrich CH; Wenzel, Andrea A; Erger, Florian F; Middelmann, Lea L; Borde, Julika J; Hahnen, Eric E; Krauß, Denise D; Oehm, Simon S; Arjune, Sita S; Todorova, Polina P; Burgmaier, Kathrin K; Liebau, Max Christoph MC; Grundmann, Franziska F; Beck, Bodo B BB; Müller, Roman-Ulrich RU
Publication Date: 2023-03

Variant appearance in text: PKD1: 9859_9861delCTC; L3287del
PubMed Link: 36938073
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer
Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T
Publication Date: 2021-10

Variant appearance in text: PKD1: 9859_9861del; Leu3287del
PubMed Link: 34738089
Variant Present in the following documents:
  • NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1
View BVdb publication page



Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System.

Plos One
Kinoshita, Moritoshi M; Higashihara, Eiji E; Kawano, Haruna H; Higashiyama, Ryo R; Koga, Daisuke D; Fukui, Takafumi T; Gondo, Nobuhisa N; Oka, Takehiko T; Kawahara, Kozo K; Rigo, Krisztina K; Hague, Tim T; Katsuragi, Kiyonori K; Sudo, Kimiyoshi K; Takeshi, Masahiko M; Horie, Shigeo S; Nutahara, Kikuo K
Publication Date: 2016

Variant appearance in text: PKD1: 9859_9861delCTC; L3287del
PubMed Link: 27835667
Variant Present in the following documents:
  • Main text
  • pone.0166288.pdf
  • pone.0166288.s007.xls, sheet 1
View BVdb publication page



High Resolution Melt analysis for mutation screening in PKD1 and PKD2.

Bmc Nephrology
Bataille, Stanislas S; Berland, Yvon Y; Fontes, Michel M; Burtey, Stéphane S
Publication Date: 2011-10-18

Variant appearance in text: PKD1: 9859_9861delCTC
PubMed Link: 22008521
Variant Present in the following documents:
  • Main text
  • 1471-2369-12-57.pdf
View BVdb publication page



Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP).

Bmc Medical Genetics
Thongnoppakhun, Wanna W; Limwongse, Chanin C; Vareesangthip, Kriengsak K; Sirinavin, Chintana C; Bunditworapoom, Duangkamon D; Rungroj, Nanyawan N; Yenchitsomanus, Pa-thai PT
Publication Date: 2004-02-03

Variant appearance in text: PKD1: L3287del
PubMed Link: 15018634
Variant Present in the following documents:
  • Main text
  • 1471-2350-5-2.pdf
View BVdb publication page