PKD1 c.7008C>A ;(p.Y2336*)

Variant ID: 16-2157941-G-T

NM_001009944.2(PKD1):c.7008C>A;(p.Y2336*)

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:

Extended follow-up of unruptured intracranial aneurysms detected by presymptomatic screening in patients with autosomal dominant polycystic kidney disease.

Clinical Journal Of The American Society Of Nephrology : Cjasn
Irazabal, Maria V MV; Huston, John J; Kubly, Vickie V; Rossetti, Sandro S; Sundsbak, Jamie L JL; Hogan, Marie C MC; Harris, Peter C PC; Brown, Robert D RD; Torres, Vicente E VE
Publication Date: 2011-06

Variant appearance in text: PKD1: Y2336X
PubMed Link: 21551026
Variant Present in the following documents:
  • Main text
View BVdb publication page