BRCA1 c.5404del ;(p.T1802Qfs*32)

Variant ID: 17-41201140-GT-G

NM_007294.3(BRCA1):c.5404del;(p.T1802Qfs*32)

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: BRCA1: 5404del; Thr1802Glnfs*32
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



BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.

The Journal Of International Medical Research
Kharel, Sanjeev S; Shrestha, Suraj S; Yadav, Siddhartha S; Shakya, Prafulla P; Baidya, Sujita S; Hirachan, Suzita S
Publication Date: 2022-01

Variant appearance in text: BRCA1: 5404del
PubMed Link: 35000471
Variant Present in the following documents:
  • sj-pdf-3-imr-10.1177_03000605211070757.pdf
View BVdb publication page



BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.

The Journal Of International Medical Research
Kharel, Sanjeev S; Shrestha, Suraj S; Yadav, Siddhartha S; Shakya, Prafulla P; Baidya, Sujita S; Hirachan, Suzita S
Publication Date: 2022-01

Variant appearance in text: BRCA1: 5404del
PubMed Link: 35000471
Variant Present in the following documents:
  • sj-pdf-3-imr-10.1177_03000605211070757.pdf
View BVdb publication page