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Mutation Direct

Effortless mutation search and display tool

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Gene: SCN2A & Disease: BFNS, 6605 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
29888	SCN2A	c.788C>T	p.Ala263Val (p.A263V)	NM_001040142.2 M	SNV	P	6 +	18
	SCN2A	c.788C>T	p.Ala263Val (p.A263V)	NM_001371246.1 MP	SNV	P	6 +	18
	SCN2A	c.788C>T	p.Ala263Val (p.A263V)	NM_001040143.2	SNV	P	6 +	18
	SCN2A	c.788C>T	p.Ala263Val (p.A263V)	NM_001371247.1	SNV	P	6 +	18
	SCN2A	c.788C>T	p.Ala263Val (p.A263V)	NM_021007.3	SNV	P	6 +	18
590198	SCN2A	c.5753G>A	p.Arg1918His (p.R1918H)	NM_001040142.2 M	SNV	LB	4 +	9
2203163	SCN2A	c.3956G>C	p.Arg1319Pro (p.R1319P)	NM_001040142.2 M	SNV	LP	3 +	9
194555	SCN2A	c.2558G>A	p.Arg853Gln (p.R853Q)	NM_001040142.2 M	SNV	P	5 +	9
590198	SCN2A	c.5753G>A	p.Arg1918His (p.R1918H)	NM_001371246.1 MP	SNV	LB	4 +	9
2203163	SCN2A	c.3956G>C	p.Arg1319Pro (p.R1319P)	NM_001371246.1 MP	SNV	LP	3 +	9
194555	SCN2A	c.2558G>A	p.Arg853Gln (p.R853Q)	NM_001371246.1 MP	SNV	P	5 +	9
590198	SCN2A	c.5753G>A	p.Arg1918His (p.R1918H)	NM_001040143.2	SNV	LB	4 +	9
	SCN2A	c.5753G>A	p.Arg1918His (p.R1918H)	NM_001371247.1	SNV	LB	4 +	9
	SCN2A	c.5753G>A	p.Arg1918His (p.R1918H)	NM_021007.3	SNV	LB	4 +	9
2203163	SCN2A	c.3956G>C	p.Arg1319Pro (p.R1319P)	NM_001040143.2	SNV	LP	3 +	9
	SCN2A	c.3956G>C	p.Arg1319Pro (p.R1319P)	NM_001371247.1	SNV	LP	3 +	9
	SCN2A	c.3956G>C	p.Arg1319Pro (p.R1319P)	NM_021007.3	SNV	LP	3 +	9
194555	SCN2A	c.2558G>A	p.Arg853Gln (p.R853Q)	NM_001040143.2	SNV	P	5 +	9
	SCN2A	c.2558G>A	p.Arg853Gln (p.R853Q)	NM_001371247.1	SNV	P	5 +	9
	SCN2A	c.2558G>A	p.Arg853Gln (p.R853Q)	NM_021007.3	SNV	P	5 +	9

6605 Results, 20 per Page

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