PKD1 c.4880_4883del ;(p.Y1627Sfs*5)

Variant ID: 16-2160284-GACAT-G

NM_001009944.2(PKD1):c.4880_4883del;(p.Y1627Sfs*5)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.

Journal Of The American Society Of Nephrology : Jasn
Cornec-Le Gall, Emilie E; Torres, Vicente E VE; Harris, Peter C PC
Publication Date: 2018-01

Variant appearance in text: PKD1: 4880_4883delATGT; Tyr1627fs
PubMed Link: 29038287
Variant Present in the following documents:
  • Main text
View BVdb publication page