PMID: 33829027

Sudden Cardiac Death-A New Insight Into Potentially Fatal Genetic Markers.

Frontiers in medicine
D Primorac, L Odak, V Perić, J Ćatić, J Šikić, V Radeljić, Š Manola, R Nussbaum, M Vatta, S Aradhya, T Sofrenović, V Matišić, V Molnar, A Skelin, J Mirat, J Brachmann
2021

14 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
11-118037618-T-C SCN2B c.632A>G p.Asp211Gly Missense 4/4 -
1-237774070-G-A RYR2 c.4692G>A p.Met1564Ile Missense 36/105 -
9-139409970-T-C NOTCH1 c.1868A>G p.Asn623Ser Missense 11/34 -
3-32188168-A-G GPD1L c.560A>G p.Asn187Ser Missense 5/8 -
3-38601712-C-T SCN5A c.4171G>A p.Gly1391Arg Missense 23/28 -
3-43122118-C-T POMGNT2 c.806G>A p.Arg269Gln Missense 2/2 -
2-44100919-T-A ABCG8 c.1212-7T>A - IntronicSNV - 8/12
1-55529180-A-G PCSK9 c.2002A>G p.Ser668Gly Missense 12/12 -
2-127828131-C-T BIN1 c.313G>A p.Glu105Lys Missense 4/19 -
6-152783892-A-G SYNE1 c.2231T>C p.Leu744Pro Missense 20/146 -
5-126774176-A-G MEGF10 c.2150A>G p.Asn717Ser Missense 18/26 -
X-31224768-T-G DMD c.9580A>C p.Ile3194Leu Missense 66/79 -
5-86675638-A-T RASA1 c.2574A>T p.Lys858Asn Missense 19/25 -
2-44066247-G-C ABCG8 c.55G>C p.Asp19His Missense 1/13 -