SCN5A c.664C>G ;(p.R222G)

Variant ID: 3-38655273-G-C

NM_000335.4(SCN5A):c.664C>G;(p.R222G)

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:

Whole-genome sequencing reveals the evolutionary trajectory of HBV-related hepatocellular carcinoma early recurrence.

Signal Transduction And Targeted Therapy
Zhou, Shao-Lai SL; Zhou, Zheng-Jun ZJ; Song, Cheng-Li CL; Xin, Hao-Yang HY; Hu, Zhi-Qiang ZQ; Luo, Chu-Bin CB; Luo, Yi-Jie YJ; Li, Jia J; Dai, Zhi Z; Yang, Xin-Rong XR; Shi, Ying-Hong YH; Wang, Zheng Z; Huang, Xiao-Wu XW; Fan, Jia J; Zhou, Jian J
Publication Date: 2022-01-26

Variant appearance in text: SCN5A: R222G
PubMed Link: 35078970
Variant Present in the following documents:
  • 41392_2021_838_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page


Whole-genome sequencing reveals the evolutionary trajectory of HBV-related hepatocellular carcinoma early recurrence.

Signal Transduction And Targeted Therapy
Zhou, Shao-Lai SL; Zhou, Zheng-Jun ZJ; Song, Cheng-Li CL; Xin, Hao-Yang HY; Hu, Zhi-Qiang ZQ; Luo, Chu-Bin CB; Luo, Yi-Jie YJ; Li, Jia J; Dai, Zhi Z; Yang, Xin-Rong XR; Shi, Ying-Hong YH; Wang, Zheng Z; Huang, Xiao-Wu XW; Fan, Jia J; Zhou, Jian J
Publication Date: 2022-01-26

Variant appearance in text: SCN5A: R222G
PubMed Link: 35078970
Variant Present in the following documents:
  • 41392_2021_838_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page


REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: SCN5A: 664C>G; R222G
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page


Long-term follow-up of permanent atrial standstill in a German family with mutation in the SCN5A gene.

Heartrhythm Case Reports
Lehmann, H Immo HI; Meltendorf, Ulf U; Klein, Helmut U HU
Publication Date: 2018-08

Variant appearance in text: SCN5A: R222G
PubMed Link: 30116708
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page