SCN5A c.665G>T ;(p.R222L)

Variant ID: 3-38655272-C-A

NM_000335.4(SCN5A):c.665G>T;(p.R222L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genotype-Positive Status Is Associated With Poor Prognoses in Patients With Left Ventricular Noncompaction Cardiomyopathy.

Journal Of The American Heart Association
Li, Shijie S; Zhang, Ce C; Liu, Nana N; Bai, Hui H; Hou, Cuihong C; Wang, Jizheng J; Song, Lei L; Pu, Jielin J
Publication Date: 2018-10-16

Variant appearance in text: rs45546039
PubMed Link: 30371277
Variant Present in the following documents:
  • JAH3-7-e009910-s001.pdf
  • JAH3-7-e009910.pdf
View BVdb publication page



In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).

Genomic Medicine
Sudandiradoss, C C; Sethumadhavan, Rao R
Publication Date: 2008-12

Variant appearance in text: rs45546039
PubMed Link: 19214780
Variant Present in the following documents:
  • Main text
View BVdb publication page