C9orf72 c.*1344C>T

Variant ID: 9-27546890-G-A

NM_018325.3(C9orf72):c.*1344C>T

This variant was identified in 4 publications

View GRCh38 version.




Publications:


PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: rs13691
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: rs13691
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: rs13691
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



The role of genetic variation near interferon-kappa in systemic lupus erythematosus.

Journal Of Biomedicine & Biotechnology
Harley, Isaac T W IT; Niewold, Timothy B TB; Stormont, Rebecca M RM; Kaufman, Kenneth M KM; Glenn, Stuart B SB; Franek, Beverly S BS; Kelly, Jennifer A JA; Kilpatrick, Jeffrey R JR; Hutchings, David D; Divers, Jasmin J; Bruner, Gail R GR; Edberg, Jeffrey C JC; McGwin, Gerald G; Petri, Michelle A MA; Ramsey-Goldman, Rosalind R; Reveille, John D JD; Vilá-Pérez, Luis M LM; Merrill, Joan T JT; Gilkeson, Gary S GS; Vyse, Timothy J TJ; Alarcón-Riquelme, Marta E ME; Cho, Soo-Kyung SK; Jacob, Chaim O CO; Alarcón, Graciela S GS; Moser, Kathy L KL; Gaffney, Patrick M PM; Kimberly, Robert P RP; Bae, Sang-Cheol SC; Langefeld, Carl D CD; Harley, John B JB; Guthridge, Joel M JM; James, Judith A JA
Publication Date: 2010

Variant appearance in text: rs13691
PubMed Link: 20706608
Variant Present in the following documents:
  • Main text
  • JBB2010-706825.pdf
View BVdb publication page