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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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