PKD1 c.10063C>A ;(p.P3355T)

Variant ID: 16-2147973-G-T

NM_001009944.2(PKD1):c.10063C>A;(p.P3355T)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats.

Plos Genetics
Anderson, Heidi H; Davison, Stephen S; Lytle, Katherine M KM; Honkanen, Leena L; Freyer, Jamie J; Mathlin, Julia J; Kyöstilä, Kaisa K; Inman, Laura L; Louviere, Annette A; Chodroff Foran, Rebecca R; Forman, Oliver P OP; Lohi, Hannes H; Donner, Jonas J
Publication Date: 2022-06

Variant appearance in text: PKD1: 10063C>A
PubMed Link: 35709088
Variant Present in the following documents:
  • Main text
  • pgen.1009804.pdf
View BVdb publication page



Feline Polycystic Kidney Disease: An Update.

Veterinary Sciences
Schirrer, Lorie L; Marín-García, Pablo Jesús PJ; Llobat, Lola L
Publication Date: 2021-11-08

Variant appearance in text: PKD1: 10063C>A
PubMed Link: 34822642
Variant Present in the following documents:
  • Main text
  • vetsci-08-00269.pdf
View BVdb publication page



Prevalence of PKD1 gene mutation in cats in Turkey and pathogenesis of feline polycystic kidney disease.

Journal Of Veterinary Diagnostic Investigation : Official Publication Of The American Association Of Veterinary Laboratory Diagnosticians, Inc
Bilgen, Nüket N; Bişkin Türkmen, Merve M; Çınar Kul, Bengi B; Isparta, Sevim S; Şen, Yusuf Y; Akkurt, Mustafa Y MY; Çıldır, Özge Ş ÖŞ; Bars, Zeynep Z
Publication Date: 2020-07

Variant appearance in text: PKD1: 10063C>A
PubMed Link: 32687010
Variant Present in the following documents:
  • Main text
View BVdb publication page



Kidney and cystic volume imaging for disease presentation and progression in the cat autosomal dominant polycystic kidney disease large animal model.

Bmc Nephrology
Yu, Yoshihiko Y; Shumway, Kate L KL; Matheson, Jodi S JS; Edwards, Marie E ME; Kline, Timothy L TL; Lyons, Leslie A LA
Publication Date: 2019-07-12

Variant appearance in text: PKD1: 10063C>A
PubMed Link: 31299928
Variant Present in the following documents:
  • 12882_2019_Article_1448.pdf
View BVdb publication page



Genetic testing in domestic cats.

Molecular And Cellular Probes
Lyons, Leslie A LA
Publication Date: 2012-12

Variant appearance in text: PKD1: 10063C>A
PubMed Link: 22546621
Variant Present in the following documents:
  • Main text
View BVdb publication page