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SCN5A c.217C>A ;(p.Q73K)
Variant ID: 3-38674582-G-T
NM_000335.4(
SCN5A
):c.217C>A;(p.Q73K)
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 case of long QT syndrome: challenges on a bumpy road.
Clinical Case Reports
Magnusson, Peter P; Gustafsson, Per-Erik PE
Publication Date: 2017-06
Variant appearance in text: SCN5A: 217C>A
PubMed Link:
28588847
Variant Present in the following documents:
Main text
View BVdb publication page