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PKD1 c.12632A>C ;(p.E4211A)
Variant ID: 16-2140008-T-G
NM_001009944.2(
PKD1
):c.12632A>C;(p.E4211A)
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:
Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes.
European Journal Of Human Genetics : Ejhg
Wills, Edgar S ES; Cnossen, Wybrich R WR; Veltman, Joris A JA; Woestenenk, Rob R; Steehouwer, Marloes M; Salomon, Jody J; Te Morsche, René H M RH; Huch, Meritxell M; Hehir-Kwa, Jayne Y JY; Banning, Martijn J MJ; Pfundt, Rolph R; Roepman, Ronald R; Hoischen, Alexander A; Drenth, Joost P H JP
Publication Date: 2016-12
Variant appearance in text: PKD1: 12632A>C; Glu4211Ala
PubMed Link:
27552964
Variant Present in the following documents:
Main text
View BVdb publication page