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.




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