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PKD1 c.10759del ;(p.A3587Rfs*20)
Variant ID: 16-2143874-GC-G
NM_001009944.2(
PKD1
):c.10759del;(p.A3587Rfs*20)
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:
Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease.
European Journal Of Human Genetics : Ejhg
Mallawaarachchi, Amali C AC; Hort, Yvonne Y; Cowley, Mark J MJ; McCabe, Mark J MJ; Minoche, André A; Dinger, Marcel E ME; Shine, John J; Furlong, Timothy J TJ
Publication Date: 2016-11
Variant appearance in text: PKD1: 10759delG; Ala3587fs
PubMed Link:
27165007
Variant Present in the following documents:
Main text
View BVdb publication page