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TTN c.6046G>A ;(p.V2016M)
Variant ID: 2-179640545-C-T
NM_001267550.1(
TTN
):c.6046G>A;(p.V2016M)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genetic investigation of 100 heart genes in sudden unexplained death victims in a forensic setting.
European Journal Of Human Genetics : Ejhg
Christiansen, Sofie Lindgren SL; Hertz, Christin Løth CL; Ferrero-Miliani, Laura L; Dahl, Morten M; Weeke, Peter Ejvin PE; LuCamp, ; Ottesen, Gyda Lolk GL; Frank-Hansen, Rune R; Bundgaard, Henning H; Morling, Niels N
Publication Date: 2016-12
Variant appearance in text: TTN: 6046G>A; V2016M
PubMed Link:
27650965
Variant Present in the following documents:
Main text
View BVdb publication page