Bibliome.ai browser hg19
Search
About
Stats
FAQ
SCN5A c.3157G>T ;(p.E1053*)
Variant ID: 3-38622493-C-A
NM_000335.4(
SCN5A
):c.3157G>T;(p.E1053*)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
SELAdb: A database of exonic variants in a Brazilian population referred to a quaternary medical center in São Paulo.
Clinics (Sao Paulo, Brazil)
Lerario, Antonio Marcondes AM; Mohan, Dipika R DR; Montenegro, Luciana Ribeiro LR; Funari, Mariana Ferreira de Assis MFA; Nishi, Mirian Yumie MY; Narcizo, Amanda de Moraes AM; Benedetti, Anna Flavia Figueredo AFF; Oba-Shinjo, Sueli Mieko SM; Vitorino, Aurélio José AJ; Santos, Rogério Alexandre Scripnic Xavier Dos RASXD; Jorge, Alexander Augusto de Lima AAL; Onuchic, Luiz Fernando LF; Marie, Suely Kazue Nagahashi SKN; Mendonca, Berenice Bilharinho BB
Publication Date: 2020
Variant appearance in text: rs137854617
PubMed Link:
32785571
Variant Present in the following documents:
Main text
cln-75-1913.pdf
View BVdb publication page
Genetic variation in human drug-related genes.
Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22
Variant appearance in text: rs137854617
PubMed Link:
29273096
Variant Present in the following documents:
13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page
Multiple lithium-dependent Brugada syndrome unmasking events in a bipolar patient.
Clinical Case Reports
Crawford, Rebecca R RR; Higdon, Ashlee N AN; Casey, David B DB; Good, David E DE; Mungrue, Imran N IN
Publication Date: 2015-01
Variant appearance in text: rs137854617
PubMed Link:
25678966
Variant Present in the following documents:
Main text
ccr30003-0014.pdf
View BVdb publication page