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Gene: MAP1B & Disease: DFNA83, 12 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1527914	MAP1B	c.4198A>G	p.Ser1400Gly (p.S1400G)	NM_005909.5 M	SNV	P	1 +	1
2442022	MAP1B	c.5563G>C	p.Gly1855Arg (p.G1855R)	NM_005909.5 M	SNV	VUS	2 +	1
1527914	MAP1B	c.3820A>G	p.Ser1274Gly (p.S1274G)	NM_001324255.2	SNV	P	1 +	1
2442022	MAP1B	c.5185G>C	p.Gly1729Arg (p.G1729R)	NM_001324255.2	SNV	VUS	2 +	1
710322	MAP1B	c.4902C>T	p.Pro1634= (p.P1634=)	NM_005909.5 M	SNV	LB	2 +	0
1708214	MAP1B	c.2995C>T	p.Arg999Ter (p.R999X)	NM_005909.5 M	SNV	P	2 +	0
2441938	MAP1B	c.996G>C	p.Glu332Asp (p.E332D)	NM_005909.5 M	SNV	VUS	2 +	0
782815	MAP1B	c.5193C>A	p.Ser1731= (p.S1731=)	NM_005909.5 M	SNV	LB	2 +	0
710322	MAP1B	c.4524C>T	p.Pro1508= (p.P1508=)	NM_001324255.2	SNV	LB	2 +	0
1708214	MAP1B	c.2617C>T	p.Arg873Ter (p.R873X)	NM_001324255.2	SNV	P	2 +	0
2441938	MAP1B	c.618G>C	p.Glu206Asp (p.E206D)	NM_001324255.2	SNV	VUS	2 +	0
782815	MAP1B	c.4815C>A	p.Ser1605= (p.S1605=)	NM_001324255.2	SNV	LB	2 +	0

12 Results, 20 per Page

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