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Gene: SCN8A & Disease: Epilepsy, 8 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
207119	SCN8A	c.4423G>A	p.Gly1475Arg (p.G1475R)	NM_001330260.2 M	SNV	P	4 +	5
	SCN8A	c.4423G>A	p.Gly1475Arg (p.G1475R)	NM_014191.4 MP	SNV	P	4 +	5
	SCN8A	c.4300G>A	p.Gly1434Arg (p.G1434R)	NM_001177984.3	SNV	P	4 +	5
	SCN8A	c.4300G>A	p.Gly1434Arg (p.G1434R)	NM_001369788.1	SNV	P	4 +	5
253195	SCN8A	c.4447G>A	p.Glu1483Lys (p.E1483K)	NM_001330260.2 M	SNV	P	5 +	4
	SCN8A	c.4447G>A	p.Glu1483Lys (p.E1483K)	NM_014191.4 MP	SNV	P	5 +	4
	SCN8A	c.4324G>A	p.Glu1442Lys (p.E1442K)	NM_001177984.3	SNV	P	5 +	4
	SCN8A	c.4324G>A	p.Glu1442Lys (p.E1442K)	NM_001369788.1	SNV	P	5 +	4

8 Results, 20 per Page

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