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Gene: HEXA & Disease: Tay-Sachs Disease, B1 Variant, 10 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
3896	HEXA	c.533G>A	p.Arg178His (p.R178H)	NM_000520.6 M	SNV	P	2 +	21
3896	HEXA	c.566G>A	p.Arg189His (p.R189H)	NM_001318825.2	SNV	P	2 +	21
3924	HEXA	c.772G>C	p.Asp258His (p.D258H)	NM_000520.6 M	SNV	P	2 +	8
3924	HEXA	c.805G>C	p.Asp269His (p.D269H)	NM_001318825.2	SNV	P	2 +	8
3897	HEXA	c.532C>T	p.Arg178Cys (p.R178C)	NM_000520.6 M	SNV	P	2 +	6
3897	HEXA	c.565C>T	p.Arg189Cys (p.R189C)	NM_001318825.2	SNV	P	2 +	6
3921	HEXA	c.959GAG[1]	p.Gly321Del (p.G321del)	NM_000520.6 M	MS	P	1 +	1
3916	HEXA	c.987G>A	p.Trp329Ter (p.W329X)	NM_000520.6 M	SNV	P	2 +	1
3921	HEXA	c.992GAG[1]	p.Gly332Del (p.G332del)	NM_001318825.2	MS	P	1 +	1
3916	HEXA	c.1020G>A	p.Trp340Ter (p.W340X)	NM_001318825.2	SNV	P	2 +	1

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