Bibliome.ai browser hg19
Search
About
Stats
FAQ
BRCA2 c.5163_5164insT ;(p.S1722*)
Variant ID: 13-32913655-C-CT
NM_000059.3(
BRCA2
):c.5163_5164insT;(p.S1722*)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Novel candidates of pathogenic variants of the BRCA1 and BRCA2 genes from a dataset of 3,552 Japanese whole genomes (3.5KJPNv2).
Plos One
Tokunaga, Hideki H; Iida, Keita K; Hozawa, Atsushi A; Ogishima, Soichi S; Watanabe, Yoh Y; Shigeta, Shogo S; Shimada, Muneaki M; Yamaguchi-Kabata, Yumi Y; Tadaka, Shu S; Katsuoka, Fumiki F; Ito, Shin S; Kumada, Kazuki K; Hamanaka, Yohei Y; Fuse, Nobuo N; Kinoshita, Kengo K; Yamamoto, Masayuki M; Yaegashi, Nobuo N; Yasuda, Jun J
Publication Date: 2021
Variant appearance in text: BRCA2: S1722fs
PubMed Link:
33428613
Variant Present in the following documents:
Main text
pone.0236907.pdf
View BVdb publication page
The contribution of hereditary cancer-related germline mutations to lung cancer susceptibility.
Translational Lung Cancer Research
Liu, Mengyuan M; Liu, Xinyi X; Suo, Peisu P; Gong, Yuan Y; Qu, Baolin B; Peng, Xiumei X; Xiao, Wenhua W; Li, Yuemin Y; Chen, Yan Y; Zeng, Zhen Z; Lu, Yinying Y; Huang, Tanxiao T; Zhao, Yingshen Y; Liu, Ming M; Li, Lifeng L; Chen, Yaru Y; Zhou, Yanqing Y; Liu, Guifeng G; Yao, Jianfei J; Chen, Shifu S; Song, Lele L
Publication Date: 2020-06
Variant appearance in text: BRCA2: S1722fs
PubMed Link:
32676327
Variant Present in the following documents:
Main text
tlcr-09-03-646.pdf
View BVdb publication page
The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels.
Plos One
Sung, Pi-Lin PL; Wen, Kuo-Chang KC; Chen, Yi-Jen YJ; Chao, Ta-Chung TC; Tsai, Yi-Fang YF; Tseng, Ling-Ming LM; Qiu, Jian-Tai Timothy JT; Chao, Kuan-Chong KC; Wu, Hua-Hsi HH; Chuang, Chi-Mu CM; Wang, Peng-Hui PH; Huang, Chi-Ying F CF
Publication Date: 2017
Variant appearance in text: N/A
PubMed Link:
28961279
Variant Present in the following documents:
View BVdb publication page