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Gene: FGA & Disease: Familial Dysfibrinogenemia, 47 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
16399	FGA	c.103C>T	p.Arg35Cys (p.R35C)	NM_021871.4 M	SNV	P	2 +	22
16399	FGA	c.103C>T	p.Arg35Cys (p.R35C)	NM_000508.5	SNV	P	2 +	22
16404	FGA	c.104G>A	p.Arg35His (p.R35H)	NM_021871.4 M	SNV	P	4 +	18
16404	FGA	c.104G>A	p.Arg35His (p.R35H)	NM_000508.5	SNV	P	4 +	18
16415	FGA	c.510+1G>T	--	NM_021871.4 M	SNV	P	4 +	6
16415	FGA	c.510+1G>T	--	NM_000508.5	SNV	P	4 +	6
16410	FGA	c.1634A>T	p.Glu545Val (p.E545V)	NM_021871.4 M	SNV	P	4 +	5
16410	FGA	c.1634A>T	p.Glu545Val (p.E545V)	NM_000508.5	SNV	P	4 +	5
16411	FGA	c.1717C>T	p.Arg573Cys (p.R573C)	NM_021871.4 M	SNV	LP	4 +	3
16411	FGA	c.1717C>T	p.Arg573Cys (p.R573C)	NM_000508.5	SNV	LP	4 +	3
632435	FGA	c.532C>T	p.Arg178Ter (p.R178X)	NM_021871.4 M	SNV	P	4 +	2
1696375	FGA	c.448C>T	p.Gln150Ter (p.Q150X)	NM_021871.4 M	SNV	P	2 +	2
402230	FGA	c.502C>T	p.Arg168Ter (p.R168X)	NM_021871.4 M	SNV	P	4 +	2
632435	FGA	c.532C>T	p.Arg178Ter (p.R178X)	NM_000508.5	SNV	P	4 +	2
1696375	FGA	c.448C>T	p.Gln150Ter (p.Q150X)	NM_000508.5	SNV	P	2 +	2
402230	FGA	c.502C>T	p.Arg168Ter (p.R168X)	NM_000508.5	SNV	P	4 +	2
627216	FGA	c.117del	p.Val40fs (p.V40fs)	NM_021871.4 M	Del	P	2 +	1
1705040	FGA	c.1119G>A	p.Trp373Ter (p.W373X)	NM_021871.4 M	SNV	LP	2 +	1
627406	FGA	c.922C>T	p.Arg308Ter (p.R308X)	NM_021871.4 M	SNV	P	4 +	1
627216	FGA	c.117del	p.Val40fs (p.V40fs)	NM_000508.5	Del	P	2 +	1

47 Results, 20 per Page

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