PKD1 c.3883G>T ;(p.E1295*)

Variant ID: 16-2161285-C-A

NM_001009944.2(PKD1):c.3883G>T;(p.E1295*)

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:

Population data improves variant interpretation in autosomal dominant polycystic kidney disease.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Mallawaarachchi, Amali C AC; Furlong, Timothy J TJ; Shine, John J; Harris, Peter C PC; Cowley, Mark J MJ
Publication Date: 2019-06

Variant appearance in text: PKD1: Glu1295Ter
PubMed Link: 30369598
Variant Present in the following documents:
  • Main text
View BVdb publication page