BRCA1 c.1836G>A ;(p.R612=)

Variant ID: 17-41245712-C-T

NM_007294.3(BRCA1):c.1836G>A;(p.R612=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

International Journal Of Cancer
Qin, Zixin Z; Li, Jiaheng J; Tam, Benjamin B; Sinha, Siddharth S; Zhao, Bojin B; Bhaskaran, Shanmuga Priya SP; Huang, Teng T; Wu, Xiaobing X; Chian, Jia Sheng JS; Guo, Maoni M; Kou, Si Hoi SH; Lei, Huijun H; Zhang, Li L; Wang, Xiaoyu X; Lagniton, Philip Naderev P PNP; Xiao, Fengxia F; Jiang, Xinyang X; Wang, San Ming SM
Publication Date: 2022-11-17

Variant appearance in text: BRCA1: 1836G>A
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s002.xlsx, sheet 1
  • IJC-152-1159-s006.xlsx, sheet 2
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: BRCA1: 1836G>A
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



A novel BRCA-1 mutation in Arab kindred from east Jerusalem with breast and ovarian cancer.

Bmc Cancer
Kadouri, Luna L; Bercovich, Dani D; Elimelech, Arava A; Lerer, Israela I; Sagi, Michal M; Glusman, Gila G; Shochat, Chen C; Korem, Sigal S; Hamburger, Tamar T; Nissan, Aviram A; Abu-Halaf, Nahil N; Badrriyah, Muhmud M; Abeliovich, Dvorah D; Peretz, Tamar T
Publication Date: 2007-01-18

Variant appearance in text: BRCA1: R612R
PubMed Link: 17233897
Variant Present in the following documents:
  • Main text
View BVdb publication page