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SCN5A c.3247G>A ;(p.G1083S)
Variant ID: 3-38620965-C-T
NM_000335.4(
SCN5A
):c.3247G>A;(p.G1083S)
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:
The metabolic genomic atlas reveals potential drivers and clinically relevant insights into the etiology of esophageal squamous cell carcinoma.
Theranostics
Liu, Xuesong X; Hong, Ruoxi R; Du, Peina P; Yang, Di D; He, Meibo M; Wu, Qingnan Q; Li, Lin L; Wang, Yan Y; Chen, Jie J; Min, Qingjie Q; Li, Jinting J; Zhang, Weimin W; Zhan, Qimin Q
Publication Date: 2022
Variant appearance in text: SCN5A: 3247G>A; G1083S
PubMed Link:
36168622
Variant Present in the following documents:
thnov12p6160s2.xlsx, sheet 2
View BVdb publication page
Systematic review and meta-analysis of genomic alterations in acral melanoma.
Pigment Cell & Melanoma Research
Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL
Publication Date: 2022-05
Variant appearance in text: SCN5A: 3247G>A
PubMed Link:
35229492
Variant Present in the following documents:
PCMR-35-369-s003.xlsx, sheet 6
View BVdb publication page
Comprehensive genomic analysis of Oesophageal Squamous Cell Carcinoma reveals clinical relevance.
Scientific Reports
Du, Peina P; Huang, Peide P; Huang, Xuanlin X; Li, Xiangchun X; Feng, Zhimin Z; Li, Fengyu F; Liang, Shaoguang S; Song, Yongmei Y; Stenvang, Jan J; BrĂ¼nner, Nils N; Yang, Huanming H; Ou, Yunwei Y; Gao, Qiang Q; Li, Lin L
Publication Date: 2017-11-10
Variant appearance in text: SCN5A: 3247G>A; G1083S
PubMed Link:
29127303
Variant Present in the following documents:
41598_2017_14909_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page