Bibliome.ai browser hg19
Search
About
Stats
FAQ
SCN5A c.4882C>T ;(p.R1628*)
Variant ID: 3-38592978-G-A
NM_000335.4(
SCN5A
):c.4882C>T;(p.R1628*)
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:
Identification of Misclassified ClinVar Variants via Disease Population Prevalence.
American Journal Of Human Genetics
Shah, Naisha N; Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Sainger, Rachana R; Caskey, C Thomas CT; Venter, J Craig JC; Telenti, Amalio A
Publication Date: 2018-04-05
Variant appearance in text: rs199473284
PubMed Link:
29625023
Variant Present in the following documents:
Main text
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: rs199473284
PubMed Link:
29273096
Variant Present in the following documents:
13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.
Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05
Variant appearance in text: SCN5A: R1628X
PubMed Link:
27377421
Variant Present in the following documents:
ncomms12072-s6.xlsx, sheet 1
View BVdb publication page