Bibliome.ai browser hg19
Search
About
Stats
FAQ
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