PKD1 c.12658G>T ;(p.E4220*)

Variant ID: 16-2139982-C-A

NM_001009944.2(PKD1):c.12658G>T;(p.E4220*)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Polycystin-1 maturation requires polycystin-2 in a dose-dependent manner.

The Journal Of Clinical Investigation
Gainullin, Vladimir G VG; Hopp, Katharina K; Ward, Christopher J CJ; Hommerding, Cynthia J CJ; Harris, Peter C PC
Publication Date: 2015-02

Variant appearance in text: PKD1: 12658G>T; E4220X
PubMed Link: 25574838
Variant Present in the following documents:
  • Main text
View BVdb publication page