PTEN c.1211G>C ;(p.*404Sext*8)

Variant ID: 10-89725228-G-C

NM_000314.4(PTEN):c.1211G>C;(p.*404Sext*8)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications
Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L
Publication Date: 2022-03-10

Variant appearance in text: PTEN: 1211G>C
PubMed Link: 35273153
Variant Present in the following documents:
  • 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: PTEN: 1211G>C
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.

American Journal Of Medical Genetics. Part A
Vanderver, Adeline A; Tonduti, Davide D; Kahn, Ilana I; Schmidt, Johanna J; Medne, Livija L; Vento, Jodie J; Chapman, Kimberly A KA; Lanpher, Brendan B; Pearl, Phillip P; Gropman, Andrea A; Lourenco, Charles C; Bamforth, John-Steven JS; Sharpe, Cynthia C; Pineda, Mercédes M; Schallner, Jens J; Bodamer, Olaf O; Orcesi, Simona S; Oberstein, Saskia A J Lesnik SA; Sistermans, Erik A EA; Yntema, Helger G HG; Bonnemann, Carsten C; Waldman, Amy T AT; van der Knaap, Marjo S MS
Publication Date: 2014-03

Variant appearance in text: PTEN: 1211G>C
PubMed Link: 24375884
Variant Present in the following documents:
  • Main text
View BVdb publication page