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VCL c.590C>T ;(p.T197I)
Variant ID: 10-75832578-C-T
NM_014000.2(
VCL
):c.590C>T;(p.T197I)
This variant was identified in 6 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Using linkage studies combined with whole-exome sequencing to identify novel candidate genes for familial colorectal cancer.
International Journal Of Cancer
Toma, Claudio C; Díaz-Gay, Marcos M; Franch-Expósito, Sebastià S; Arnau-Collell, Coral C; Overs, Bronwyn B; Muñoz, Jenifer J; Bonjoch, Laia L; Soares de Lima, Yasmin Y; Ocaña, Teresa T; Cuatrecasas, Miriam M; Castells, Antoni A; Bujanda, Luis L; Balaguer, Francesc F; Cubiella, Joaquín J; Caldés, Trinidad T; Fullerton, Janice M JM; Castellví-Bel, Sergi S
Publication Date: 2020-03-15
Variant appearance in text: VCL: 590C>T; Thr197Ile
PubMed Link:
31525256
Variant Present in the following documents:
Main text
IJC-146-1568.pdf
View BVdb publication page
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.
Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation
van Lint, F H M FHM; Mook, O R F ORF; Alders, M M; Bikker, H H; Lekanne Dit Deprez, R H RH; Christiaans, I I
Publication Date: 2019-06
Variant appearance in text: VCL: 590C>T; Thr197Ile; rs189242810
PubMed Link:
30847666
Variant Present in the following documents:
12471_2019_1250_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes.
Nature Communications
Momozawa, Yukihide Y; Dmitrieva, Julia J; Théâtre, Emilie E; Deffontaine, Valérie V; Rahmouni, Souad S; Charloteaux, Benoît B; Crins, François F; Docampo, Elisa E; Elansary, Mahmoud M; Gori, Ann-Stephan AS; Lecut, Christelle C; Mariman, Rob R; Mni, Myriam M; Oury, Cécile C; Altukhov, Ilya I; Alexeev, Dmitry D; Aulchenko, Yuri Y; Amininejad, Leila L; Bouma, Gerd G; Hoentjen, Frank F; Löwenberg, Mark M; Oldenburg, Bas B; Pierik, Marieke J MJ; Vander Meulen-de Jong, Andrea E AE; Janneke van der Woude, C C; Visschedijk, Marijn C MC; , ; Lathrop, Mark M; Hugot, Jean-Pierre JP; Weersma, Rinse K RK; De Vos, Martine M; Franchimont, Denis D; Vermeire, Severine S; Kubo, Michiaki M; Louis, Edouard E; Georges, Michel M
Publication Date: 2018-06-21
Variant appearance in text: VCL: Thr197Ile; rs189242810
PubMed Link:
29930244
Variant Present in the following documents:
41467_2018_4365_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page
Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.
Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18
Variant appearance in text: VCL: T197I; rs189242810
PubMed Link:
28716134
Variant Present in the following documents:
13073_2017_454_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page
Sources of discordance among germ-line variant classifications in ClinVar.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10
Variant appearance in text: VCL: 590C>T; Thr197Ile
PubMed Link:
28569743
Variant Present in the following documents:
gim201760x7.xlsx, sheet 2
View BVdb publication page
Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.
Plos One
Sanchez, Olallo O; Campuzano, Oscar O; Fernández-Falgueras, Anna A; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Mademont, Irene I; Mates, Jesus J; Pérez-Serra, Alexandra A; Coll, Monica M; Pico, Ferran F; Iglesias, Anna A; Tirón, Coloma C; Allegue, Catarina C; Carro, Esther E; Gallego, María Ángeles MÁ; Ferrer-Costa, Carles C; Hospital, Anna A; Bardalet, Narcís N; Borondo, Juan Carlos JC; Vingut, Albert A; Arbelo, Elena E; Brugada, Josep J; Castellà, Josep J; Medallo, Jordi J; Brugada, Ramon R
Publication Date: 2016
Variant appearance in text: VCL: T197I; rs189242810
PubMed Link:
27930701
Variant Present in the following documents:
Main text
pone.0167358.pdf
View BVdb publication page