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SCN5A c.2204C>G ;(p.A735G)
Variant ID: 3-38639278-G-C
NM_000335.4(
SCN5A
):c.2204C>G;(p.A735G)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.
Npj Genomic Medicine
Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R
Publication Date: 2017
Variant appearance in text: SCN5A: A735G
PubMed Link:
29263839
Variant Present in the following documents:
41525_2017_32_MOESM8_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: rs137854611
PubMed Link:
25678966
Variant Present in the following documents:
Main text
ccr30003-0014.pdf
View BVdb publication page