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KCNH2 c.101C>T ;(p.A34V)
Variant ID: 7-150672005-G-A
NM_000238.3(
KCNH2
):c.101C>T;(p.A34V)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Evolving neoantigen profiles in colorectal cancers with DNA repair defects.
Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28
Variant appearance in text: KCNH2: A34V
PubMed Link:
31253177
Variant Present in the following documents:
13073_2019_654_MOESM2_ESM.xlsx, sheet 51
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: KCNH2: 101C>T; A34V
PubMed Link:
27930701
Variant Present in the following documents:
Main text
pone.0167358.pdf
View BVdb publication page