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HR c.2037G>A ;(p.Q679=)
Variant ID: 8-21980090-C-T
NM_005144.4(
HR
):c.2037G>A;(p.Q679=)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Frequent alterations in cytoskeleton remodelling genes in primary and metastatic lung adenocarcinomas.
Nature Communications
Wu, Kui K; Zhang, Xin X; Li, Fuqiang F; Xiao, Dakai D; Hou, Yong Y; Zhu, Shida S; Liu, Dongbing D; Ye, Xiaofei X; Ye, Mingzhi M; Yang, Jie J; Shao, Libin L; Pan, Hui H; Lu, Na N; Yu, Yuan Y; Liu, Liping L; Li, Jin J; Huang, Liyan L; Tang, Hailing H; Deng, Qiuhua Q; Zheng, Yue Y; Peng, Lihua L; Liu, Geng G; Gu, Xia X; He, Ping P; Gu, Yingying Y; Lin, Weixuan W; He, Huiming H; Xie, Guoyun G; Liang, Han H; An, Na N; Wang, Hui H; Teixeira, Manuel M; Vieira, Joana J; Liang, Wenhua W; Zhao, Xin X; Peng, Zhiyu Z; Mu, Feng F; Zhang, Xiuqing X; Xu, Xun X; Yang, Huanming H; Kristiansen, Karsten K; Wang, Jian J; Zhong, Nanshan N; Wang, Jun J; Pan-Hammarström, Qiang Q; He, Jianxing J
Publication Date: 2015-12-09
Variant appearance in text: HR: Q679Q
PubMed Link:
26647728
Variant Present in the following documents:
ncomms10131-s8.xlsx, sheet 1
View BVdb publication page
Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy.
Plos One
Pereira, Fernanda dos Santos Fdos S; Matte, Ursula U; Habekost, Clarissa Troller CT; de Castilhos, Raphael Machado RM; El Husny, Antonette Souto AS; Lourenço, Charles Marques CM; Vianna-Morgante, Angela M AM; Giuliani, Liane L; Galera, Marcial Francis MF; Honjo, Rachel R; Kim, Chong Ae CA; Politei, Juan J; Vargas, Carmen Regla CR; Jardim, Laura Bannach LB
Publication Date: 2012
Variant appearance in text: HR: 2037G>A
PubMed Link:
22479560
Variant Present in the following documents:
Main text
View BVdb publication page