BRCA2 c.1306_1313del ;(p.K436Ffs*13)

Variant ID: 13-32906915-AAAAGAAAG-A

NM_000059.3(BRCA2):c.1306_1313del;(p.K436Ffs*13)

This variant was identified in 2 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: BRCA2: 1306_1313del; Lys436Phefs*13
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s002.xlsx, sheet 2
  • IJC-152-1159-s006.xlsx, sheet 3
View BVdb publication page



Novel mutations in actionable breast cancer genes by targeted sequencing in an ethnically homogenous cohort.

Bmc Medical Genetics
Akter, Hosneara H; Sultana, Nasima N; Martuza, Nazrana N; Siddiqua, Aaysha A; Dity, Nushrat Jahan NJ; Rahaman, Md Atikur MA; Samara, Bisan B; Sayeed, Ahmed A; Basiruzzaman, Mohammed M; Rahman, Mohammad Mizanur MM; Rashidul Hoq, Md M; Amin, Md Robed MR; Baqui, Md Abdul MA; Woodbury-Smith, Marc M; Uddin, K M Furkan KMF; Islam, Syed S SS; Awwal, Rayhana R; Berdiev, Bakhrom K BK; Uddin, Mohammed M
Publication Date: 2019-09-02

Variant appearance in text: BRCA2: 1301_1308delAAAGAAAG; Lys436Phefs
PubMed Link: 31477031
Variant Present in the following documents:
  • Main text
  • 12881_2019_Article_881.pdf
View BVdb publication page