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ESR1 c.720C>T ;(p.C240=)
Variant ID: 6-152201866-C-T
NM_000125.3(
ESR1
):c.720C>T;(p.C240=)
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:
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: ESR1: 720C>T
PubMed Link:
31189880
Variant Present in the following documents:
41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page
Germline mutation in the TP53 gene in uveal melanoma.
Scientific Reports
Hajkova, Nikola N; Hojny, Jan J; Nemejcova, Kristyna K; Dundr, Pavel P; Ulrych, Jan J; Jirsova, Katerina K; Glezgova, Johana J; Ticha, Ivana I
Publication Date: 2018-05-16
Variant appearance in text: ESR1: C240C; rs200303616
PubMed Link:
29769598
Variant Present in the following documents:
41598_2018_26040_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page