present in Gene: SCN5A
present in Chromosome: 3
Position on Chromosome: 38579474
Alleles of this Variant: C/G;T
rs199473190 in
SCN5A gene and
Sudden infant death syndrome
PMID 21810866 2011 HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).
PMID 19302788 2009 Biophysical characterization of a new SCN5A mutation S1333Y in a SIDS infant linked to long QT syndrome.
PMID 18596570 2008 We studied three major genes causing long QT syndrome in 42 Japanese SIDS victims and found five mutations, KCNQ1-K598R, KCNH2-T895M, SCN5A-F532C, SCN5A-G1084S, and SCN5A-F1705S, in four cases; one case had both KCNH2-T895M and SCN5A-G1084S.