PKD1 c.12439_12441del ;(p.K4147del)

Variant ID: 16-2140289-CCTT-C

NM_001009944.2(PKD1):c.12439_12441del;(p.K4147del)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease.

Plos One
Eisenberger, Tobias T; Decker, Christian C; Hiersche, Milan M; Hamann, Ruben C RC; Decker, Eva E; Neuber, Steffen S; Frank, Valeska V; Bolz, Hanno J HJ; Fehrenbach, Henry H; Pape, Lars L; Toenshoff, Burkhard B; Mache, Christoph C; Latta, Kay K; Bergmann, Carsten C
Publication Date: 2015

Variant appearance in text: PKD1: 12439_12441del; Lys4147del
PubMed Link: 25646624
Variant Present in the following documents:
  • pone.0116680.s016.pdf
View BVdb publication page



Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease.

Bmc Medical Genetics
Obeidova, Lena L; Elisakova, Veronika V; Stekrova, Jitka J; Reiterova, Jana J; Merta, Miroslav M; Tesar, Vladimir V; Losan, Frantisek F; Kohoutova, Milada M
Publication Date: 2014-04-03

Variant appearance in text: PKD1: 12439_12441delAAG; Lys4147del
PubMed Link: 24694054
Variant Present in the following documents:
  • Main text
  • 1471-2350-15-41.pdf
View BVdb publication page