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SCN5A c.1637A>G ;(p.D546G)
Variant ID: 3-38645456-T-C
NM_000335.4(
SCN5A
):c.1637A>G;(p.D546G)
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:
Long QT molecular autopsy in sudden unexplained death in the young (1-40 years old): Lessons learnt from an eight year experience in New Zealand.
Plos One
Marcondes, Luciana L; Crawford, Jackie J; Earle, Nikki N; Smith, Warren W; Hayes, Ian I; Morrow, Paul P; Donoghue, Tom T; Graham, Amanda A; Love, Donald D; Skinner, Jonathan R JR; ,
Publication Date: 2018
Variant appearance in text: SCN5A: 1637A>G; Asp546Gly
PubMed Link:
29672598
Variant Present in the following documents:
Main text
pone.0196078.pdf
View BVdb publication page