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EGR1 c.1304C>A ;(p.A435D)
Variant ID: 5-137803442-C-A
NM_001964.2(
EGR1
):c.1304C>A;(p.A435D)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Alterations in homologous recombination repair genes in prostate cancer brain metastases.
Nature Communications
Rodriguez-Calero, Antonio A; Gallon, John J; Akhoundova, Dilara D; Maletti, Sina S; Ferguson, Alison A; Cyrta, Joanna J; Amstutz, Ursula U; Garofoli, Andrea A; Paradiso, Viola V; Tomlins, Scott A SA; Hewer, Ekkehard E; Genitsch, Vera V; Fleischmann, Achim A; Vassella, Erik E; Rushing, Elisabeth J EJ; Grobholz, Rainer R; Fischer, Ingeborg I; Jochum, Wolfram W; Cathomas, Gieri G; Osunkoya, Adeboye O AO; Bubendorf, Lukas L; Moch, Holger H; Thalmann, George G; Ng, Charlotte K Y CKY; Gillessen, Silke S; Piscuoglio, Salvatore S; Rubin, Mark A MA
Publication Date: 2022-05-03
Variant appearance in text: 225: Ala435Asp
PubMed Link:
35504881
Variant Present in the following documents:
41467_2022_30003_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.
European Journal Of Human Genetics : Ejhg
Baumgartner-Parzer, Sabina S; Witsch-Baumgartner, Martina M; Hoeppner, Wolfgang W
Publication Date: 2020-10
Variant appearance in text: 225: 1304C>A
PubMed Link:
32616876
Variant Present in the following documents:
Main text
41431_2020_Article_653.pdf
View BVdb publication page
Identification of Single Nucleotide Polymorphism in Red Clover (Trifolium pratense L.) Using Targeted Genomic Amplicon Sequencing and RNA-seq.
Frontiers In Plant Science
Li, Wenli W; Riday, Heathcliffe H; Riehle, Christina C; Edwards, Andrea A; Dinkins, Randy R
Publication Date: 2019
Variant appearance in text: 225: 1304C>A
PubMed Link:
31708937
Variant Present in the following documents:
DataSheet_2.xlsx, sheet 1
View BVdb publication page