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ESR1 c.174C>T ;(p.A58=)
Variant ID: 6-152129221-C-T
NM_000125.3(
ESR1
):c.174C>T;(p.A58=)
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 Novel Silent Mutation in the L1CAM Gene Causing Fetal Hydrocephalus Detected by Whole-Exome Sequencing.
Frontiers In Genetics
Sun, Yixi Y; Li, Yanfeng Y; Chen, Min M; Luo, Yuqin Y; Qian, Yeqing Y; Yang, Yanmei Y; Lu, Hong H; Lou, Fenlan F; Dong, Minyue M
Publication Date: 2019
Variant appearance in text: ESR1: 174C>T; rs79415092
PubMed Link:
31572438
Variant Present in the following documents:
Table_1.xlsx, sheet 1
View BVdb publication page
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07
Variant appearance in text: ESR1: 174C>T
PubMed Link:
31165590
Variant Present in the following documents:
MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page