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KCNQ1 c.1796T>A ;(p.V599E)
Variant ID: 11-2868998-T-A
NM_000218.2(
KCNQ1
):c.1796T>A;(p.V599E)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Low VHL mRNA expression is associated with more aggressive tumor features of papillary thyroid carcinoma.
Plos One
Stanojevic, Boban B; Saenko, Vladimir V; Todorovic, Lidija L; Petrovic, Nina N; Nikolic, Dragan D; Zivaljevic, Vladan V; Paunovic, Ivan I; Nakashima, Masahiro M; Yamashita, Shunichi S; Dzodic, Radan R
Publication Date: 2014
Variant appearance in text: KCNQ1: V599E
PubMed Link:
25490036
Variant Present in the following documents:
pone.0114511.pdf
View BVdb publication page
Genetic factors associated with small for gestational age birth and the use of human growth hormone in treating the disorder.
International Journal Of Pediatric Endocrinology
Saenger, Paul P; Reiter, Edward E
Publication Date: 2012-05-15
Variant appearance in text: KCNQ1: V599E
PubMed Link:
22587301
Variant Present in the following documents:
Main text
1687-9856-2012-12.pdf
View BVdb publication page