SYNJ2 c.4283C>T ;(p.T1428I)

Variant ID: 6-158517188-C-T

NM_003898.3(SYNJ2):c.4283C>T;(p.T1428I)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genome-Wide Characterization of a Highly Penetrant Form of Hyperlipoprotein(a)emia Associated With Genetically Elevated Cardiovascular Risk.

Circulation. Genomic And Precision Medicine
Coassin, Stefan S; Chemello, Kevin K; Khantalin, Ilya I; Forer, Lukas L; Döttelmayer, Patricia P; Schönherr, Sebastian S; Grüneis, Rebecca R; Chong-Hong-Fong, Clément C; Nativel, Brice B; Ramin-Mangata, Stéphane S; Gallo, Antonio A; Roche, Mathias M; Muelegger, Beatrix B; Gieger, Christian C; Peters, Annette A; Zschocke, Johannes J; Marimoutou, Catherine C; Meilhac, Olivier O; Lamina, Claudia C; Kronenberg, Florian F; Blanchard, Valentin V; Lambert, Gilles G
Publication Date: 2022-04

Variant appearance in text: SYNJ2: Thr1428Ile
PubMed Link: 35133173
Variant Present in the following documents:
  • hcg-15-e003489-s001.pdf
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: SYNJ2: 4283C>T
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page