ABCG5 c.436G>A ;(p.E146K)

Variant ID: 2-44058973-C-T

NM_022436.2(ABCG5):c.436G>A;(p.E146K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.

Biomedical Reports
Miroshnikova, Valentina V VV; Romanova, Olga V OV; Ivanova, Olga N ON; Fedyakov, Mikhail A MA; Panteleeva, Alexandra A AA; Barbitoff, Yury A YA; Muzalevskaya, Maria V MV; Urazgildeeva, Sorejya A SA; Gurevich, Victor S VS; Urazov, Stanislav P SP; Scherbak, Sergey G SG; Sarana, Andrey M AM; Semenova, Natalia A NA; Anisimova, Inga V IV; Guseva, Darya M DM; Pchelina, Sofya N SN; Glotov, Andrey S AS; Zakharova, Ekaterina Y EY; Glotov, Oleg S OS
Publication Date: 2021-01

Variant appearance in text: ABCG5: 436G>A
PubMed Link: 33269076
Variant Present in the following documents:
  • Supplementary_Data.pdf
View BVdb publication page



Circulating tumor DNA predicts response in Chinese patients with relapsed or refractory classical hodgkin lymphoma treated with sintilimab.

Ebiomedicine
Shi, Yuankai Y; Su, Hang H; Song, Yongping Y; Jiang, Wenqi W; Sun, Xiuhua X; Qian, Wenbin W; Zhang, Wei W; Gao, Yuhuan Y; Jin, Zhengming Z; Zhou, Jianfeng J; Jin, Chuan C; Zou, Liqun L; Qiu, Lugui L; Li, Wei W; Yang, Jianmin J; Hou, Ming M; Xiong, Yan Y; Zhou, Hui H; Du, Xinhua X; Wang, Xiong X; Peng, Bo B
Publication Date: 2020-04

Variant appearance in text: ABCG5: 436G>A; E146K
PubMed Link: 32304999
Variant Present in the following documents:
  • mmc1.xlsx, sheet 4
View BVdb publication page