PKD1 c.6534C>A ;(p.C2178*)

Variant ID: 16-2158634-G-T

NM_001009944.2(PKD1):c.6534C>A;(p.C2178*)

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: 6534C>A; Cys2178*
PubMed Link: 27165007
Variant Present in the following documents:
  • Main text
View BVdb publication page