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BARD1 c.1788A>G ;(p.K596=)
Variant ID: 2-215610468-T-C
NM_000465.2(
BARD1
):c.1788A>G;(p.K596=)
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:
A pan-cancer analysis of synonymous mutations.
Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12
Variant appearance in text: BARD1: 1788A>G
PubMed Link:
31189880
Variant Present in the following documents:
41467_2019_10489_MOESM5_ESM.xlsx, sheet 1
41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page
Dualistic Role of BARD1 in Cancer.
Genes
Cimmino, Flora F; Formicola, Daniela D; Capasso, Mario M
Publication Date: 2017-12-08
Variant appearance in text: rs777084777
PubMed Link:
29292755
Variant Present in the following documents:
Main text
genes-08-00375.pdf
View BVdb publication page
Sources of discordance among germ-line variant classifications in ClinVar.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10
Variant appearance in text: BARD1: 1788A>G; Lys596=
PubMed Link:
28569743
Variant Present in the following documents:
gim201760x7.xlsx, sheet 2
View BVdb publication page