BRCA2 c.5453C>G ;(p.S1818*)

Variant ID: 13-32913945-C-G

NM_000059.3(BRCA2):c.5453C>G;(p.S1818*)

This variant was identified in 2 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: BRCA2: 5453C>G; Ser1818X
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Germline and somatic mutations in homologous recombination genes among Chinese ovarian cancer patients detected using next-generation sequencing.

Journal Of Gynecologic Oncology
Zhao, Qianying Q; Yang, Jiaxin J; Li, Lei L; Cao, Dongyan D; Yu, Mei M; Shen, Keng K; ,
Publication Date: 2017-07

Variant appearance in text: BRCA2: 5453C>G; Ser1818*
PubMed Link: 28541631
Variant Present in the following documents:
  • Main text
  • jgo-28-e39.pdf
View BVdb publication page