Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854600
rs137854600
SCN5A
0.040 GeneticVariation BEFREE The surviving infant was found to have a heterozygous mutation in SCN5A (R1623Q), previously reported as a de novo mutation causing neonatal ventricular arrhythmia and LQTS. 15184283

2004
dbSNP: rs137854600
rs137854600
SCN5A
0.040 GeneticVariation BEFREE Single channel analysis revealed that R1623Q channels have significantly prolonged open times with bursting behavior, suggesting a novel mechanism of pathophysiology in Na+ channel-linked long QT syndrome. 9506831

1998
dbSNP: rs137854600
rs137854600
SCN5A
0.040 GeneticVariation BEFREE Phenotypic characterization of a novel long-QT syndrome mutation (R1623Q) in the cardiac sodium channel. 9495298

1998
dbSNP: rs137854600
rs137854600
SCN5A
0.040 GeneticVariation BEFREE We identified a novel missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic LQTS. 10200053

1998