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Mutation Direct

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Gene: NDST1 & Disease: MRT46, 44 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
161412	NDST1	c.1831G>A	p.Gly611Ser (p.G611S)	NM_001543.5 M	SNV	P	1 +	3
161412	NDST1	c.1831G>A	p.Gly611Ser (p.G611S)	NM_001301063.2	SNV	P	1 +	3
161409	NDST1	c.2126G>A	p.Arg709Gln (p.R709Q)	NM_001543.5 M	SNV	P	1 +	2
161410	NDST1	c.1926G>T	p.Glu642Asp (p.E642D)	NM_001543.5 M	SNV	P	1 +	2
1267932	NDST1	c.1662G>C	p.Thr554= (p.T554=)	NM_001543.5 M	SNV	B	1 +	2
1302757	NDST1	c.750A>G	p.Pro250= (p.P250=)	NM_001543.5 M	SNV	B	1 +	2
1302756	NDST1	c.681T>G	p.Val227= (p.V227=)	NM_001543.5 M	SNV	B	1 +	2
717699	NDST1	c.927A>G	p.Pro309= (p.P309=)	NM_001543.5 M	SNV	LB	1 +	2
426984	NDST1	c.883G>A	p.Val295Met (p.V295M)	NM_001543.5 M	SNV	VUS	1 +	2
161409	NDST1	c.2126G>A	p.Arg709Gln (p.R709Q)	NM_001301063.2	SNV	P	1 +	2
161410	NDST1	c.1926G>T	p.Glu642Asp (p.E642D)	NM_001301063.2	SNV	P	1 +	2
1267932	NDST1	c.1662G>C	p.Thr554= (p.T554=)	NM_001301063.2	SNV	B	1 +	2
1302757	NDST1	c.750A>G	p.Pro250= (p.P250=)	NM_001301063.2	SNV	B	1 +	2
1302756	NDST1	c.681T>G	p.Val227= (p.V227=)	NM_001301063.2	SNV	B	1 +	2
717699	NDST1	c.927A>G	p.Pro309= (p.P309=)	NM_001301063.2	SNV	LB	1 +	2
426984	NDST1	c.883G>A	p.Val295Met (p.V295M)	NM_001301063.2	SNV	VUS	1 +	2
1032751	NDST1	c.2468G>C	p.Gly823Ala (p.G823A)	NM_001543.5 M	SNV	VUS	1 +	1
2408522	NDST1	c.2623C>T	p.Arg875Ter (p.R875X)	NM_001543.5 M	SNV	VUS	1 +	1
547959	NDST1	c.2401A>T	p.Thr801Ser (p.T801S)	NM_001543.5 M	SNV	VUS	1 +	1
161411	NDST1	c.1918T>C	p.Phe640Leu (p.F640L)	NM_001543.5 M	SNV	P	1 +	1

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