PKD1 c.6795C>G ;(p.Y2265*)

Variant ID: 16-2158373-G-C

NM_001009944.2(PKD1):c.6795C>G;(p.Y2265*)

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:

Molecular diagnostics in autosomal dominant polycystic kidney disease: utility and limitations.

Clinical Journal Of The American Society Of Nephrology : Cjasn
Zhao, Xiao X; Paterson, Andrew D AD; Zahirieh, Alireza A; He, Ning N; Wang, Kairong K; Pei, York Y
Publication Date: 2008-01

Variant appearance in text: PKD1: Y2265X
PubMed Link: 18077784
Variant Present in the following documents:
  • Main text
View BVdb publication page