ESR1 c.1019C>T ;(p.A340V)

Variant ID: 6-152265566-C-T

NM_000125.3(ESR1):c.1019C>T;(p.A340V)

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:

Clinical Relevance of Genomic Changes in Recurrent Pediatric Solid Tumors.

Translational Oncology
Lee, Boram B; Lee, Ji Won JW; Shim, Joon Ho JH; Joung, Je-Gun JG; Yun, Jae Won JW; Bae, Joon Seol JS; Shin, Hyun-Tae HT; Sung, Ki Woong KW; Park, Woong-Yang WY
Publication Date: 2018-12

Variant appearance in text: ESR1: A340V
PubMed Link: 30216764
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page


The prognostic effects of somatic mutations in ER-positive breast cancer.

Nature Communications
Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ
Publication Date: 2018-09-04

Variant appearance in text: ESR1: A340V
PubMed Link: 30181556
Variant Present in the following documents:
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 6
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 7
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 8
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 9
  • 41467_2018_5914_MOESM1_ESM.pdf
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 5
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 12
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 10
View BVdb publication page


Somatic mutations in benign breast disease tissue and risk of subsequent invasive breast cancer.

British Journal Of Cancer
Rohan, Thomas E TE; Miller, Christopher A CA; Li, Tiandao T; Wang, Yihong Y; Loudig, Olivier O; Ginsberg, Mindy M; Glass, Andrew A; Mardis, Elaine E
Publication Date: 2018-06

Variant appearance in text: ESR1: A340V
PubMed Link: 29872146
Variant Present in the following documents:
  • 41416_2018_89_MOESM2_ESM.xls, sheet 1
View BVdb publication page