SBNO1 c.*5328C>T

Variant ID: 12-123775127-G-A

NM_001167856.1(SBNO1):c.*5328C>T

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11

Variant appearance in text: rs10773003
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Variants Associated With Plasma Lipids Are Associated With the Lipid Response to Niacin.

Journal Of The American Heart Association
Tuteja, Sony S; Qu, Liming L; Vujkovic, Marijana M; Dunbar, Richard L RL; Chen, Jinbo J; DerOhannessian, Stephanie S; Rader, Daniel J DJ
Publication Date: 2018-10-02

Variant appearance in text: rs10773003
PubMed Link: 30371334
Variant Present in the following documents:
  • JAH3-7-0e03488.pdf
View BVdb publication page



Genome-wide analysis of the genetic regulation of gene expression in human neutrophils.

Nature Communications
Andiappan, Anand Kumar AK; Melchiotti, Rossella R; Poh, Tuang Yeow TY; Nah, Michelle M; Puan, Kia Joo KJ; Vigano, Elena E; Haase, Doreen D; Yusof, Nurhashikin N; San Luis, Boris B; Lum, Josephine J; Kumar, Dilip D; Foo, Shihui S; Zhuang, Li L; Vasudev, Anusha A; Irwanto, Astrid A; Lee, Bernett B; Nardin, Alessandra A; Liu, Hong H; Zhang, Furen F; Connolly, John J; Liu, Jianjun J; Mortellaro, Alessandra A; Wang, De Yun Y; Poidinger, Michael M; Larbi, Anis A; Zolezzi, Francesca F; Rotzschke, Olaf O
Publication Date: 2015-08-10

Variant appearance in text: rs10773003
PubMed Link: 26259071
Variant Present in the following documents:
  • ncomms8971-s1.pdf
View BVdb publication page