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Effortless mutation search and display tool

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Gene: ACTG2 & Disease: Autosomal Dominant Familial Visceral Neuropathy, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
132803	ACTG2	c.769C>T	p.Arg257Cys (p.R257C)	NM_001615.4 M	SNV	P	6 +	11
132803	ACTG2	c.640C>T	p.Arg214Cys (p.R214C)	NM_001199893.2	SNV	P	6 +	11
132802	ACTG2	c.119G>A	p.Arg40His (p.R40H)	NM_001615.4 M	SNV	P	5 +	6
132802	ACTG2	c.119G>A	p.Arg40His (p.R40H)	NM_001199893.2	SNV	P	5 +	6

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