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Mutation Direct

Effortless mutation search and display tool

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Gene: DDHD2 & Disease: SPG54, 1261 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
39679	DDHD2	c.1978G>C	p.Asp660His (p.D660H)	NM_015214.3 M	SNV	P	3 +	4
	DDHD2	c.1978G>C	p.Asp660His (p.D660H)	NM_001164232.2	SNV	P	3 +	4
	DDHD2	c.1978G>C	p.Asp660His (p.D660H)	NM_001362911.2	SNV	P	3 +	4
	DDHD2	c.1978G>C	p.Asp660His (p.D660H)	NM_001362912.2	SNV	P	3 +	4
	DDHD2	c.1888G>C	p.Asp630His (p.D630H)	NM_001362913.2	SNV	P	3 +	4
	DDHD2	c.1978G>C	p.Asp660His (p.D660H)	NM_001362914.2	SNV	P	3 +	4
1696332	DDHD2	c.1126-2A>G	--	NM_015214.3 M	SNV	LP	1 +	3
2025715	DDHD2	c.1617+1G>T	--	NM_015214.3 M	SNV	LP	1 +	3
39681	DDHD2	c.859C>T	p.Arg287Ter (p.R287X)	NM_015214.3 M	SNV	P	1 +	3
39680	DDHD2	c.1546C>T	p.Arg516Ter (p.R516X)	NM_015214.3 M	SNV	P	1 +	3
583003	DDHD2	c.1248+2T>C	--	NM_015214.3 M	SNV	LP	1 +	3
1696332	DDHD2	c.1126-2A>G	--	NM_001362914.2	SNV	LP	1 +	3
	DDHD2	c.1036-2A>G	--	NM_001362913.2	SNV	LP	1 +	3
	DDHD2	c.1126-2A>G	--	NM_001362912.2	SNV	LP	1 +	3
	DDHD2	c.1126-2A>G	--	NM_001362911.2	SNV	LP	1 +	3
	DDHD2	c.1126-2A>G	--	NM_001164232.2	SNV	LP	1 +	3
2025715	DDHD2	c.1617+1G>T	--	NM_001362914.2	SNV	LP	1 +	3
	DDHD2	c.1527+1G>T	--	NM_001362913.2	SNV	LP	1 +	3
	DDHD2	c.1617+1G>T	--	NM_001362912.2	SNV	LP	1 +	3
	DDHD2	c.1617+1G>T	--	NM_001362911.2	SNV	LP	1 +	3

1261 Results, 20 per Page

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