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Mutation Direct

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Gene: SLC1A1 & Disease: DCBXA, 121 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
367038	SLC1A1	c.149T>A	p.Phe50Tyr (p.F50Y)	NM_004170.6 M	SNV	B	1 +	2
367047	SLC1A1	c.633C>T	p.Asn211= (p.N211=)	NM_004170.6 M	SNV	LB	1 +	2
620038	SLC1A1	c.860C>G	p.Ala287Gly (p.A287G)	NM_004170.6 M	SNV	LB	2 +	1
733731	SLC1A1	c.261C>T	p.Ser87= (p.S87=)	NM_004170.6 M	SNV	B	1 +	1
733732	SLC1A1	c.750C>T	p.Ile250= (p.I250=)	NM_004170.6 M	SNV	B	1 +	1
790061	SLC1A1	c.195C>G	p.Leu65= (p.L65=)	NM_004170.6 M	SNV	B	1 +	1
713810	SLC1A1	c.1200G>A	p.Thr400= (p.T400=)	NM_004170.6 M	SNV	LB	1 +	1
155859	SLC1A1	c.1333C>T	p.Arg445Trp (p.R445W)	NM_004170.6 M	SNV	P	1 +	1
155860	SLC1A1	c.1181TCA[1]	p.Ile395Del (p.I395del)	NM_004170.6 M	MS	P	1 +	1
913887	SLC1A1	c.920T>C	p.Ile307Thr (p.I307T)	NM_004170.6 M	SNV	LB	1 +	1
1034055	SLC1A1	c.768-4C>G	--	NM_004170.6 M	SNV	VUS	1 +	1
930648	SLC1A1	c.875+8A>G	--	NM_004170.6 M	SNV	VUS	1 +	1
367037	SLC1A1	c.123C>T	p.His41= (p.H41=)	NM_004170.6 M	SNV	B	1 +	1
367039	SLC1A1	c.165T>C	p.Pro55= (p.P55=)	NM_004170.6 M	SNV	B	1 +	1
367042	SLC1A1	c.414G>A	p.Thr138= (p.T138=)	NM_004170.6 M	SNV	B	1 +	1
367046	SLC1A1	c.582+6A>G	--	NM_004170.6 M	SNV	B	1 +	1
367056	SLC1A1	c.1227T>C	p.Ala409= (p.A409=)	NM_004170.6 M	SNV	LB	1 +	1
913932	SLC1A1	c.*475A>G	--	NM_004170.6 M	SNV	LB	1 +	0
913933	SLC1A1	c.*526C>T	--	NM_004170.6 M	SNV	LB	1 +	0
913934	SLC1A1	c.*567T>C	--	NM_004170.6 M	SNV	VUS	1 +	0

121 Results, 20 per Page

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