Whole genome sequencing in paediatric channelopathy and cardiomyopathy
www.frontiersin.org
Genetic testing using WES only identified a variant in the SCN5A gene (SCN5A: c.874G>A, p.Gly292Ser) A case with the same variant was also reported in ClinVar, where it was classified as a likely pathogenic (LP) variant, albeit without accompanying phenotype information. Specifically, four new varia
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- Genetic testing using WES only identified a variant in the SCN5A gene (SCN5A: c.874G>A, p.Gly292Ser)
- A case with the same variant was also reported in ClinVar, where it was classified as a likely pathogenic (LP) variant, albeit without accompanying phenotype information.
- Specifically, four new variants located in intronic regions of genes could be identified in 3 patients.
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