PKD1 c.1759G>T ;(p.A587S)

Variant ID: 16-2166083-C-A

NM_001009944.2(PKD1):c.1759G>T;(p.A587S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association
Mansilla, M Adela MA; Sompallae, Ramakrishna R RR; Nishimura, Carla J CJ; Kwitek, Anne E AE; Kimble, Mycah J MJ; Freese, Margaret E ME; Campbell, Colleen A CA; Smith, Richard J RJ; Thomas, Christie P CP
Publication Date: 2021-01-25

Variant appearance in text: PKD1: 1759G>T
PubMed Link: 31738409
Variant Present in the following documents:
  • Main text
  • gfz173.pdf
View BVdb publication page