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SCN5A c.3302C>T ;(p.A1101V)
Variant ID: 3-38620910-G-A
NM_000335.4(
SCN5A
):c.3302C>T;(p.A1101V)
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 rare variant in MYH6 is associated with high risk of sick sinus syndrome.
Nature Genetics
Holm, Hilma H; Gudbjartsson, Daniel F DF; Sulem, Patrick P; Masson, Gisli G; Helgadottir, Hafdis Th HT; Zanon, Carlo C; Magnusson, Olafur Th OT; Helgason, Agnar A; Saemundsdottir, Jona J; Gylfason, Arnaldur A; Stefansdottir, Hrafnhildur H; Gretarsdottir, Solveig S; Matthiasson, Stefan E SE; Thorgeirsson, Gu Mundur GM; Jonasdottir, Aslaug A; Sigurdsson, Asgeir A; Stefansson, Hreinn H; Werge, Thomas T; Rafnar, Thorunn T; Kiemeney, Lambertus A LA; Parvez, Babar B; Muhammad, Raafia R; Roden, Dan M DM; Darbar, Dawood D; Thorleifsson, Gudmar G; Walters, G Bragi GB; Kong, Augustine A; Thorsteinsdottir, Unnur U; Arnar, David O DO; Stefansson, Kari K
Publication Date: 2011-03-06
Variant appearance in text: SCN5A: Ala1101Val
PubMed Link:
21378987
Variant Present in the following documents:
Main text
View BVdb publication page