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HFE c.199C>T ;(p.R67C)
Variant ID: 6-26091191-C-T
NM_000410.3(
HFE
):c.199C>T;(p.R67C)
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:
Whole Exome Sequencing Identifies Frequent Somatic Mutations in Cell-Cell Adhesion Genes in Chinese Patients with Lung Squamous Cell Carcinoma.
Scientific Reports
Li, Chenguang C; Gao, Zhibo Z; Li, Fei F; Li, Xiangchun X; Sun, Yihua Y; Wang, Mengyun M; Li, Dan D; Wang, Rui R; Li, Fuming F; Fang, Rong R; Pan, Yunjian Y; Luo, Xiaoyang X; He, Jing J; Zheng, Liangtao L; Xia, Jufeng J; Qiu, Lixin L; He, Jun J; Ye, Ting T; Zhang, Ruoxin R; He, Minghui M; Zhu, Meiling M; Hu, Haichuan H; Shi, Tingyan T; Zhou, Xiaoyan X; Sun, Menghong M; Tian, Shilin S; Zhou, Yong Y; Wang, Qiaoxiu Q; Chen, Longyun L; Yin, Guangliang G; Lu, Jingya J; Wu, Renhua R; Guo, Guangwu G; Li, Yingrui Y; Hu, Xueda X; Li, Lin L; Asan, ; Wang, Qin Q; Yin, Ye Y; Feng, Qiang Q; Wang, Bin B; Wang, Hang H; Wang, Mingbang M; Yang, Xiaonan X; Zhang, Xiuqing X; Yang, Huanming H; Jin, Li L; Wang, Cun-Yu CY; Ji, Hongbin H; Chen, Haiquan H; Wang, Jun J; Wei, Qingyi Q
Publication Date: 2015-10-27
Variant appearance in text: HFE: R67C
PubMed Link:
26503331
Variant Present in the following documents:
srep14237-s2.xls, sheet 1
View BVdb publication page
HFE gene: Structure, function, mutations, and associated iron abnormalities.
Gene
Barton, James C JC; Edwards, Corwin Q CQ; Acton, Ronald T RT
Publication Date: 2015-12-15
Variant appearance in text: HFE: R67C
PubMed Link:
26456104
Variant Present in the following documents:
Main text
View BVdb publication page
Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants.
Haematologica
Aguilar-Martinez, Patricia P; Grandchamp, Bernard B; Cunat, Séverine S; Cadet, Estelle E; Blanc, François F; Nourrit, Marlène M; Lassoued, Kaiss K; Schved, Jean-François JF; Rochette, Jacques J
Publication Date: 2011-04
Variant appearance in text: HFE: Arg67Cys
PubMed Link:
21228038
Variant Present in the following documents:
Main text
View BVdb publication page