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Mutation Direct

Effortless mutation search and display tool

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Gene: SPTB & Disease: SPH2, 303 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
544812	SPTB	c.2863C>T	p.Arg955Ter (p.R955X)	NM_001355436.2 M	SNV	P	1 +	8
12843	SPTB	c.5266C>T	p.Arg1756Ter (p.R1756X)	NM_001355436.2 M	SNV	P	1 +	8
544812	SPTB	c.2863C>T	p.Arg955Ter (p.R955X)	NM_001024858.4	SNV	P	1 +	8
544812	SPTB	c.2863C>T	p.Arg955Ter (p.R955X)	NM_001355437.2	SNV	P	1 +	8
12843	SPTB	c.5266C>T	p.Arg1756Ter (p.R1756X)	NM_001024858.4	SNV	P	1 +	8
12843	SPTB	c.5266C>T	p.Arg1756Ter (p.R1756X)	NM_001355437.2	SNV	P	1 +	8
1163553	SPTB	c.1912C>T	p.Arg638Ter (p.R638X)	NM_001355436.2 M	SNV	P	1 +	7
812019	SPTB	c.4267C>T	p.Arg1423Ter (p.R1423X)	NM_001355436.2 M	SNV	P	1 +	7
1163553	SPTB	c.1912C>T	p.Arg638Ter (p.R638X)	NM_001024858.4	SNV	P	1 +	7
1163553	SPTB	c.1912C>T	p.Arg638Ter (p.R638X)	NM_001355437.2	SNV	P	1 +	7
812019	SPTB	c.4267C>T	p.Arg1423Ter (p.R1423X)	NM_001024858.4	SNV	P	1 +	7
812019	SPTB	c.4267C>T	p.Arg1423Ter (p.R1423X)	NM_001355437.2	SNV	P	1 +	7
1453666	SPTB	c.4873C>T	p.Arg1625Ter (p.R1625X)	NM_001355436.2 M	SNV	P	1 +	6
	SPTB	c.4873C>T	p.Arg1625Ter (p.R1625X)	NM_001024858.4	SNV	P	1 +	6
	SPTB	c.4873C>T	p.Arg1625Ter (p.R1625X)	NM_001355437.2	SNV	P	1 +	6
1676986	SPTB	c.85G>T	p.Glu29Ter (p.E29X)	NM_001355436.2 M	SNV	P	1 +	5
	SPTB	c.85G>T	p.Glu29Ter (p.E29X)	NM_001024858.4	SNV	P	1 +	5
	SPTB	c.85G>T	p.Glu29Ter (p.E29X)	NM_001355437.2	SNV	P	1 +	5
544811	SPTB	c.647G>A	p.Arg216Gln (p.R216Q)	NM_001355436.2 M	SNV	P	1 +	4
544816	SPTB	c.3916C>T	p.Arg1306Ter (p.R1306X)	NM_001355436.2 M	SNV	P	1 +	4

303 Results, 20 per Page

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