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TTN c.49793G>A ;(p.W16598*)
Variant ID: 2-179477655-C-T
NM_001267550.1(
TTN
):c.49793G>A;(p.W16598*)
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:
Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA).
Orphanet Journal Of Rare Diseases
Schuermans, Nika N; Hemelsoet, Dimitri D; Terryn, Wim W; Steyaert, Sanne S; Van Coster, Rudy R; Coucke, Paul J PJ; Steyaert, Wouter W; Callewaert, Bert B; Bogaert, Elke E; Verloo, Patrick P; Vanlander, Arnaud V AV; Debackere, Elke E; Ghijsels, Jody J; LeBlanc, Pontus P; Verdin, Hannah H; Naesens, Leslie L; Haerynck, Filomeen F; Callens, Steven S; Dermaut, Bart B; Poppe, Bruce B; ,
Publication Date: 2022-05-23
Variant appearance in text: TTN: Trp16598Ter
PubMed Link:
35606766
Variant Present in the following documents:
Main text
13023_2022_Article_2365.pdf
View BVdb publication page