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SCN5A c.1652C>A ;(p.A551E)
Variant ID: 3-38645441-G-T
NM_000335.4(
SCN5A
):c.1652C>A;(p.A551E)
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:
Characterization of a novel Nav1.5 channel mutation, A551T, associated with Brugada syndrome.
Journal Of Biomedical Science
Chiang, Kun-Chi KC; Lai, Ling-Ping LP; Shieh, Ru-Chi RC
Publication Date: 2009-08-25
Variant appearance in text: SCN5A: A551E
PubMed Link:
19706159
Variant Present in the following documents:
Main text
1423-0127-16-76.pdf
View BVdb publication page