HSPB7 c.*1196A>T

Variant ID: 1-16340879-T-A

NM_014424.4(HSPB7):c.*1196A>T

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Large scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy.

Medrxiv : The Preprint Server For Health Sciences
Tadros, Rafik R; Zheng, Sean L SL; Grace, Christopher C; Jordà, Paloma P; Francis, Catherine C; Jurgens, Sean J SJ; Thomson, Kate L KL; Harper, Andrew R AR; Ormondroyd, Elizabeth E; West, Dominique M DM; Xu, Xiao X; Theotokis, Pantazis I PI; Buchan, Rachel J RJ; McGurk, Kathryn A KA; Mazzarotto, Francesco F; Boschi, Beatrice B; Pelo, Elisabetta E; Lee, Michael M; Noseda, Michela M; Varnava, Amanda A; Vermeer, Alexa Mc AM; Walsh, Roddy R; Amin, Ahmad S AS; van Slegtenhorst, Marjon A MA; Roslin, Nicole N; Strug, Lisa J LJ; Salvi, Erika E; Lanzani, Chiara C; de Marvao, Antonio A; , ; Roberts, Jason D JD; Tremblay-Gravel, Maxime M; Giraldeau, Genevieve G; Cadrin-Tourigny, Julia J; L'Allier, Philippe L PL; Garceau, Patrick P; Talajic, Mario M; Pinto, Yigal M YM; Rakowski, Harry H; Pantazis, Antonis A; Baksi, John J; Halliday, Brian P BP; Prasad, Sanjay K SK; Barton, Paul Jr PJ; O'Regan, Declan P DP; Cook, Stuart A SA; de Boer, Rudolf A RA; Christiaans, Imke I; Michels, Michelle M; Kramer, Christopher M CM; Ho, Carolyn Y CY; Neubauer, Stefan S; , ; Matthews, Paul M PM; Wilde, Arthur A AA; Tardif, Jean-Claude JC; Olivotto, Iacopo I; Adler, Arnon A; Goel, Anuj A; Ware, James S JS; Bezzina, Connie R CR; Watkins, Hugh H
Publication Date: 2023-02-06

Variant appearance in text: rs1048302
PubMed Link: 36778260
Variant Present in the following documents:
  • nihpp-2023.01.28.23285147v2.pdf
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs1048302
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



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: rs1048302
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: rs1048302
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.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: rs1048302
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



Haplotype diversity in four genes (CLCNKA, CLCNKB, BSND, NEDD4L) involved in renal salt reabsorption.

Human Heredity
Sile, Saba S; Velez, Digna R DR; Gillani, Niloufar B NB; Alexander, Charles A CA; Alexander, Charles R CR; George, Alfred L AL; Williams, Scott M SM
Publication Date: 2008

Variant appearance in text: rs1048302
PubMed Link: 17652939
Variant Present in the following documents:
  • Main text
View BVdb publication page