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Gene: SLC5A5 & Disease: TDH1, 101 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
7664	SLC5A5	c.1060A>C	p.Thr354Pro (p.T354P)	NM_000453.3 M	SNV	P	1 +	6
7667	SLC5A5	c.1593C>G	p.Tyr531Ter (p.Y531X)	NM_000453.3 M	SNV	P	1 +	4
7670	SLC5A5	c.1183G>A	p.Gly395Arg (p.G395R)	NM_000453.3 M	SNV	P	2 +	4
7665	SLC5A5	c.816C>A	p.Cys272Ter (p.C272X)	NM_000453.3 M	SNV	P	1 +	2
891419	SLC5A5	c.1421G>A	p.Arg474Lys (p.R474K)	NM_000453.3 M	SNV	VUS	1 +	1
1335333	SLC5A5	c.1789G>A	p.Gly597Arg (p.G597R)	NM_000453.3 M	SNV	VUS	1 +	1
771215	SLC5A5	c.1058+8C>T	--	NM_000453.3 M	SNV	B	1 +	1
256195	SLC5A5	c.1326A>C	p.Thr442= (p.T442=)	NM_000453.3 M	SNV	B	1 +	1
256197	SLC5A5	c.1330-15C>T	--	NM_000453.3 M	SNV	LB	1 +	1
256199	SLC5A5	c.1652-9G>A	--	NM_000453.3 M	SNV	B	1 +	1
256200	SLC5A5	c.839+11C>T	--	NM_000453.3 M	SNV	B	1 +	1
1222858	SLC5A5	c.1767+29A>G	--	NM_000453.3 M	SNV	B	1 +	1
803544	SLC5A5	c.-54C>T	--	NM_000453.3 M	SNV	LB	1 +	1
777523	SLC5A5	c.546C>T	p.Gly182= (p.G182=)	NM_000453.3 M	SNV	LB	1 +	1
777524	SLC5A5	c.861C>T	p.Val287= (p.V287=)	NM_000453.3 M	SNV	B	1 +	1
328538	SLC5A5	c.1224C>T	p.Leu408= (p.L408=)	NM_000453.3 M	SNV	B	1 +	1
328541	SLC5A5	c.1507G>A	p.Asp503Asn (p.D503N)	NM_000453.3 M	SNV	LB	1 +	1
328543	SLC5A5	c.1632C>G	p.Ala544= (p.A544=)	NM_000453.3 M	SNV	LB	1 +	1
737639	SLC5A5	c.1780C>T	p.Leu594Phe (p.L594F)	NM_000453.3 M	SNV	LB	1 +	1
2444146	SLC5A5	c.1546C>T	p.Arg516Ter (p.R516X)	NM_000453.3 M	SNV	P	1 +	1

101 Results, 20 per Page

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