BRCA1 c.176C>G ;(p.S59*)

Variant ID: 17-41258509-G-C

NM_007294.3(BRCA1):c.176C>G;(p.S59*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

Npj Breast Cancer
Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ
Publication Date: 2020

Variant appearance in text: BRCA1: 176C>G; Ser59X
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Accurate classification of BRCA1 variants with saturation genome editing.

Nature
Findlay, Gregory M GM; Daza, Riza M RM; Martin, Beth B; Zhang, Melissa D MD; Leith, Anh P AP; Gasperini, Molly M; Janizek, Joseph D JD; Huang, Xingfan X; Starita, Lea M LM; Shendure, Jay J
Publication Date: 2018-10

Variant appearance in text: BRCA1: 176C>G; S59*
PubMed Link: 30209399
Variant Present in the following documents:
  • NIHMS1501643-supplement-2.xlsx, sheet 1
View BVdb publication page



ERBB2-Mutated Metastatic Non-Small Cell Lung Cancer: Response and Resistance to Targeted Therapies.

Journal Of Thoracic Oncology : Official Publication Of The International Association For The Study Of Lung Cancer
Chuang, Jody C JC; Stehr, Henning H; Liang, Ying Y; Das, Millie M; Huang, Jane J; Diehn, Maximilian M; Wakelee, Heather A HA; Neal, Joel W JW
Publication Date: 2017-05

Variant appearance in text: BRCA1: S59X
PubMed Link: 28167203
Variant Present in the following documents:
  • Main text
View BVdb publication page