Full data view for gene SCN5A

Information The variants shown are described using the NM_198056.2 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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+/. 3 c.311G>A r.(?) p.(Arg104Gln) Unknown - pathogenic g.38671883C>T g.38630392C>T G311A - SCN5A_000655 data from Inherited Arrhythmias web site PubMed: Kapplinger 2010 - - Germline - - - - - DNA SEQ - - BRGDA1 20129283-? PubMed: Kapplinger 2010 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.311G>A r.(?) p.(Arg104Gln) Unknown - pathogenic g.38671883C>T g.38630392C>T - - SCN5A_000655 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.311G>A r.(?) p.(Arg104Gln) Unknown ACMG likely pathogenic g.38671883C>T g.38630392C>T - - SCN5A_000655 ACMG: PS1_moderat, PS3_m,PM1,PM2,PM5,PP3 - - - Germline ? - - - - DNA SEQ-NG-I - - MYOP 110345 - - M ? Germany - - - - - 1 Andreas Laner
+/. - c.311G>A r.(?) p.(Arg104Gln) Unknown ACMG pathogenic g.38671883C>T g.38630392C>T - - SCN5A_000655 ACMG: PP3,PS1,PM2,PM5,PS3; p.Arg104Gln (R104Q) CGG>CAG: c.311 G>A in exon 3 of the SCN5A gene (NM _198056.2) The R104Q mutation in th e SCN5A gene has been reported in o ne Moroccan individual with Brugada syndrome who had a family history of Brugada syndrome in two siblings (Levy-Nissenbaum E et al., 2001). Furthermore, in vitro studies in a mammalian expression system showed that R104Q did not result in a func tional sodium channel (Gutter C et al., 2013). R104Q is a non-conserva tive amino acid substitution as the se residues differ in polarity, cha rge, size and/or other properties a nd is more likely to impact seconda ry structure. The R104 residue is h ighly conserved across species (Lev y-Nissenbaum E et al., 2001). Mutat ions in the same residue (R104G, R1 04W) and in nearby residues (V95I, N109K) have been reported in associ ation with arrhythmia, further supp orting the functional importance of this residue and this region of th e protein. Additionally, the R104Q mutation was not observed in approx imately 6500 individuals of Europea n and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common beni gn variant in these populations. Th e variant is found in CARDIOMYOPATH Y panel(s).; Gütter et al. 2013. Front Physiol 4: 153; Levy-Nissenbaum et al. 2001. Genet Test 5: 331 - - rs199473554 Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
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