TG c.2240_2241delinsAA ;(p.S747*)

Variant ID: 8-133900292-CT-AA

NM_003235.4(TG):c.2240_2241delinsAA;(p.S747*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

Nature Genetics
Klarin, Derek D; Damrauer, Scott M SM; Cho, Kelly K; Sun, Yan V YV; Teslovich, Tanya M TM; Honerlaw, Jacqueline J; Gagnon, David R DR; DuVall, Scott L SL; Li, Jin J; Peloso, Gina M GM; Chaffin, Mark M; Small, Aeron M AM; Huang, Jie J; Tang, Hua H; Lynch, Julie A JA; Ho, Yuk-Lam YL; Liu, Dajiang J DJ; Emdin, Connor A CA; Li, Alexander H AH; Huffman, Jennifer E JE; Lee, Jennifer S JS; Natarajan, Pradeep P; Chowdhury, Rajiv R; Saleheen, Danish D; Vujkovic, Marijana M; Baras, Aris A; Pyarajan, Saiju S; Di Angelantonio, Emanuele E; Neale, Benjamin M BM; Naheed, Aliya A; Khera, Amit V AV; Danesh, John J; Chang, Kyong-Mi KM; Abecasis, Gonçalo G; Willer, Cristen C; Dewey, Frederick E FE; Carey, David J DJ; , ; , ; , ; , ; Concato, John J; Gaziano, J Michael JM; O'Donnell, Christopher J CJ; Tsao, Philip S PS; Kathiresan, Sekar S; Rader, Daniel J DJ; Wilson, Peter W F PWF; Assimes, Themistocles L TL
Publication Date: 2018-11

Variant appearance in text: TG: Ser747Ter
PubMed Link: 30275531
Variant Present in the following documents:
  • Main text
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: TG: S747*
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page