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Mutation Direct

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Gene: SCN5A & Disease: PFHB1A, 2624 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
9392	SCN5A	c.3575G>A	p.Arg1192Gln (p.R1192Q)	NM_000335.5 M	SNV	P	10 +	42
	SCN5A	c.3578G>A	p.Arg1193Gln (p.R1193Q)	NM_001099404.2 MP	SNV	P	10 +	42
	SCN5A	c.3578G>A	p.Arg1193Gln (p.R1193Q)	NM_001099405.2	SNV	P	10 +	42
	SCN5A	c.3575G>A	p.Arg1192Gln (p.R1192Q)	NM_001160160.2	SNV	P	10 +	42
	SCN5A	c.3416G>A	p.Arg1139Gln (p.R1139Q)	NM_001160161.2	SNV	P	10 +	42
	SCN5A	c.3575G>A	p.Arg1192Gln (p.R1192Q)	NM_001354701.2	SNV	P	10 +	42
	SCN5A	c.3578G>A	p.Arg1193Gln (p.R1193Q)	NM_198056.3	SNV	P	10 +	42
9393	SCN5A	c.3305C>A	p.Ser1102Tyr (p.S1102Y)	NM_000335.5 M	SNV	P	13 +	40
	SCN5A	c.3308C>A	p.Ser1103Tyr (p.S1103Y)	NM_001099404.2 MP	SNV	P	13 +	40
	SCN5A	c.3308C>A	p.Ser1103Tyr (p.S1103Y)	NM_001099405.2	SNV	P	13 +	40
	SCN5A	c.3305C>A	p.Ser1102Tyr (p.S1102Y)	NM_001160160.2	SNV	P	13 +	40
	SCN5A	c.3305C>A	p.Ser1102Tyr (p.S1102Y)	NM_001354701.2	SNV	P	13 +	40
	SCN5A	c.3308C>A	p.Ser1103Tyr (p.S1103Y)	NM_198056.3	SNV	P	13 +	40
	SCN5A	c.3228+1515C>A	--	NM_001160161.2	SNV	P	13 +	40
68024	SCN5A	c.6013C>G	p.Pro2005Ala (p.P2005A)	NM_000335.5 M	SNV	LB	7 +	32
	SCN5A	c.6016C>G	p.Pro2006Ala (p.P2006A)	NM_001099404.2 MP	SNV	LB	7 +	32
	SCN5A	c.5962C>G	p.Pro1988Ala (p.P1988A)	NM_001099405.2	SNV	LB	7 +	32
	SCN5A	c.5917C>G	p.Pro1973Ala (p.P1973A)	NM_001160160.2	SNV	LB	7 +	32
	SCN5A	c.5854C>G	p.Pro1952Ala (p.P1952A)	NM_001160161.2	SNV	LB	7 +	32
	SCN5A	c.5959C>G	p.Pro1987Ala (p.P1987A)	NM_001354701.2	SNV	LB	7 +	32

2624 Results, 20 per Page

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