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SCN5A c.1937del ;(p.Q646Rfs*5)
Variant ID: 3-38640495-CT-C
NM_000335.4(
SCN5A
):c.1937del;(p.Q646Rfs*5)
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:
Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes.
Translational Research : The Journal Of Laboratory And Clinical Medicine
Giudicessi, John R JR; Ackerman, Michael J MJ
Publication Date: 2013-01
Variant appearance in text: SCN5A: Q646RfsX5
PubMed Link:
22995932
Variant Present in the following documents:
Main text
View BVdb publication page