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SCN5A c.4216G>A ;(p.A1406T)
Variant ID: 3-38601664-C-T
NM_000335.4(
SCN5A
):c.4216G>A;(p.A1406T)
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:
Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.
Aging
Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D
Publication Date: 2020-07-07
Variant appearance in text: SCN5A: 4216G>A
PubMed Link:
32639949
Variant Present in the following documents:
aging-12-103115-s013..xlsx, sheet 1
View BVdb publication page
A Bayesian method to estimate variant-induced disease penetrance.
Plos Genetics
Kroncke, Brett M BM; Smith, Derek K DK; Zuo, Yi Y; Glazer, Andrew M AM; Roden, Dan M DM; Blume, Jeffrey D JD
Publication Date: 2020-06
Variant appearance in text: SCN5A: 4216G>A
PubMed Link:
32569262
Variant Present in the following documents:
Main text
pgen.1008862.pdf
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: 4216G>A; A1406T
PubMed Link:
29127303
Variant Present in the following documents:
41598_2017_14909_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page