HFE c.211C>T ;(p.R71*)

Variant ID: 6-26091203-C-T

NM_000410.3(HFE):c.211C>T;(p.R71*)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Identification of novel non-HFE mutations in Chinese patients with hereditary hemochromatosis.

Orphanet Journal Of Rare Diseases
Zhang, Wei W; Li, Yanmeng Y; Xu, Anjian A; Ouyang, Qin Q; Wu, Liyan L; Zhou, Donghu D; Wu, Lina L; Zhang, Bei B; Zhao, Xinyan X; Wang, Yu Y; Wang, Xiaoming X; Duan, Weijia W; Wang, Qianyi Q; You, Hong H; Huang, Jian J; Ou, Xiaojuan X; Jia, Jidong J; ,
Publication Date: 2022-06-06

Variant appearance in text: HFE: R71X
PubMed Link: 35668470
Variant Present in the following documents:
  • Main text
  • 13023_2022_Article_2349.pdf
View BVdb publication page



Correlation of genotype and phenotype in 32 patients with hereditary hemochromatosis in China.

Orphanet Journal Of Rare Diseases
Wu, Liyan L; Zhang, Wei W; Li, Yanmeng Y; Zhou, Donghu D; Zhang, Bei B; Xu, Anjian A; Wu, Zhen Z; Wu, Lina L; Li, Shuxiang S; Wang, Xiaoming X; Zhao, Xinyan X; Wang, Qianyi Q; Li, Min M; Wang, Yu Y; You, Hong H; Huang, Jian J; Ou, Xiaojuan X; Jia, Jidong J
Publication Date: 2021-09-28

Variant appearance in text: HFE: 211C>T; R71X
PubMed Link: 34583728
Variant Present in the following documents:
  • Main text
  • 13023_2021_Article_2020.pdf
View BVdb publication page



Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Bmc Medicine
Haverfield, Eden V EV; Esplin, Edward D ED; Aguilar, Sienna J SJ; Hatchell, Kathryn E KE; Ormond, Kelly E KE; Hanson-Kahn, Andrea A; Atwal, Paldeep S PS; Macklin-Mantia, Sarah S; Hines, Stephanie S; Sak, Caron W-M CW; Tucker, Steven S; Bleyl, Steven B SB; Hulick, Peter J PJ; Gordon, Ora K OK; Velsher, Lea L; Gu, Jessica Y J JYJ; Weissman, Scott M SM; Kruisselbrink, Teresa T; Abel, Christopher C; Kettles, Michele M; Slavotinek, Anne A; Mendelsohn, Bryce A BA; Green, Robert C RC; Aradhya, Swaroop S; Nussbaum, Robert L RL
Publication Date: 2021-08-18

Variant appearance in text: HFE: 211C>T; Arg71*
PubMed Link: 34404389
Variant Present in the following documents:
  • 12916_2021_1999_MOESM2_ESM.pdf
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: HFE: 211C>T; Arg71Ter; rs759524388
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: HFE: 211C>T; Arg71*; rs759524388
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



HFE-Related Hemochromatosis in a Chinese Patient: The First Reported Case.

Frontiers In Genetics
Zhang, Wei W; Wang, Xiaoming X; Duan, Weijia W; Xu, Anjian A; Zhao, Xinyan X; Huang, Jian J; You, Hong H; Brissot, Pierre P; Ou, Xiaojuan X; Jia, Jidong J
Publication Date: 2020

Variant appearance in text: HFE: R71X
PubMed Link: 32153640
Variant Present in the following documents:
  • Main text
  • fgene-11-00077.pdf
View BVdb publication page