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TTN c.101117T>C ;(p.V33706A)
Variant ID: 2-179400225-A-G
NM_001267550.1(
TTN
):c.101117T>C;(p.V33706A)
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:
A novel variant in KCNQ1 associated with short QT syndrome.
Heartrhythm Case Reports
Schneider, Kristin K; Parrott, Ashley A; Spar, David D; Knilans, Timothy T; Czosek, Richard R; Miller, Erin E; Anderson, Jeffrey J
Publication Date: 2021-10
Variant appearance in text: TTN: Val33706Ala
PubMed Link:
34712558
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page