TG c.4379-1704C>T

Variant ID: 8-133929917-C-T

NM_003235.4(TG):c.4379-1704C>T

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs853308
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs853308
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Susceptible loci associated with autoimmune disease as potential biomarkers for checkpoint inhibitor-induced immune-related adverse events.

Esmo Open
Hoefsmit, Esmée P EP; Rozeman, Elisa A EA; Haanen, John B A G JBAG; Blank, Christian U CU
Publication Date: 2019

Variant appearance in text: rs853308
PubMed Link: 31423333
Variant Present in the following documents:
  • esmoopen-2018-000472supp001.pdf
View BVdb publication page



Genetic Susceptibility to Vitiligo: GWAS Approaches for Identifying Vitiligo Susceptibility Genes and Loci.

Frontiers In Genetics
Shen, Changbing C; Gao, Jing J; Sheng, Yujun Y; Dou, Jinfa J; Zhou, Fusheng F; Zheng, Xiaodong X; Ko, Randy R; Tang, Xianfa X; Zhu, Caihong C; Yin, Xianyong X; Sun, Liangdan L; Cui, Yong Y; Zhang, Xuejun X
Publication Date: 2016

Variant appearance in text: rs853308
PubMed Link: 26870082
Variant Present in the following documents:
  • Main text
  • fgene-07-00003.pdf
View BVdb publication page



Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.

Nature Genetics
Jin, Ying Y; Birlea, Stanca A SA; Fain, Pamela R PR; Ferrara, Tracey M TM; Ben, Songtao S; Riccardi, Sheri L SL; Cole, Joanne B JB; Gowan, Katherine K; Holland, Paulene J PJ; Bennett, Dorothy C DC; Luiten, Rosalie M RM; Wolkerstorfer, Albert A; van der Veen, J P Wietze JP; Hartmann, Anke A; Eichner, Saskia S; Schuler, Gerold G; van Geel, Nanja N; Lambert, Jo J; Kemp, E Helen EH; Gawkrodger, David J DJ; Weetman, Anthony P AP; Taïeb, Alain A; Jouary, Thomas T; Ezzedine, Khaled K; Wallace, Margaret R MR; McCormack, Wayne T WT; Picardo, Mauro M; Leone, Giovanni G; Overbeck, Andreas A; Silverberg, Nanette B NB; Spritz, Richard A RA
Publication Date: 2012-05-06

Variant appearance in text: rs853308
PubMed Link: 22561518
Variant Present in the following documents:
  • Main text
  • nihms-370049.pdf
View BVdb publication page