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SCN5A c.4510A>G ;(p.K1504E)
Variant ID: 3-38597176-T-C
NM_000335.4(
SCN5A
):c.4510A>G;(p.K1504E)
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:
The voltage-gated sodium channel EF-hands form an interaction with the III-IV linker that is disturbed by disease-causing mutations.
Scientific Reports
Gardill, Bernd R BR; Rivera-Acevedo, Ricardo E RE; Tung, Ching-Chieh CC; Okon, Mark M; McIntosh, Lawrence P LP; Van Petegem, Filip F
Publication Date: 2018-03-14
Variant appearance in text: LQT3: K1504E
PubMed Link:
29540853
Variant Present in the following documents:
Main text
41598_2018_22713_MOESM1_ESM.pdf
41598_2018_Article_22713.pdf
View BVdb publication page