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Mutation Direct

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Gene: DHCR24 & Disease: DESMOS, 106 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
297663	DHCR24	c.360C>T	p.Asp120= (p.D120=)	NM_014762.4 M	SNV	LB	1 +	2
874282	DHCR24	c.616G>A	p.Glu206Lys (p.E206K)	NM_014762.4 M	SNV	LB	1 +	2
876127	DHCR24	c.1329G>A	p.Pro443= (p.P443=)	NM_014762.4 M	SNV	VUS	1 +	1
828024	DHCR24	c.1241_1242insAGTCC	p.Phe415fs (p.F415fs)	NM_014762.4 M	Ins	VUS	1 +	1
4369	DHCR24	c.571G>A	p.Glu191Lys (p.E191K)	NM_014762.4 M	SNV	P	1 +	1
4367	DHCR24	c.1412A>C	p.Tyr471Ser (p.Y471S)	NM_014762.4 M	SNV	P	1 +	1
30576	DHCR24	c.307C>T	p.Arg103Cys (p.R103C)	NM_014762.4 M	SNV	P	1 +	1
30577	DHCR24	c.281G>A	p.Arg94His (p.R94H)	NM_014762.4 M	SNV	P	1 +	1
30578	DHCR24	c.1438G>A	p.Glu480Lys (p.E480K)	NM_014762.4 M	SNV	P	1 +	1
877073	DHCR24	c.718C>T	p.Leu240= (p.L240=)	NM_014762.4 M	SNV	LB	1 +	0
876062	DHCR24	c.*1137G>C	--	NM_014762.4 M	SNV	VUS	1 +	0
876063	DHCR24	c.*1073C>G	--	NM_014762.4 M	SNV	VUS	1 +	0
876064	DHCR24	c.*984G>A	--	NM_014762.4 M	SNV	VUS	1 +	0
1184322	DHCR24	c.286G>C	p.Gly96Arg (p.G96R)	NM_014762.4 M	SNV	VUS	1 +	0
876126	DHCR24	c.1431C>T	p.Asn477= (p.N477=)	NM_014762.4 M	SNV	VUS	1 +	0
876129	DHCR24	c.1155G>A	p.Gln385= (p.Q385=)	NM_014762.4 M	SNV	VUS	1 +	0
876128	DHCR24	c.1228A>G	p.Ile410Val (p.I410V)	NM_014762.4 M	SNV	VUS	1 +	0
875112	DHCR24	c.*1535G>A	--	NM_014762.4 M	SNV	VUS	1 +	0
875114	DHCR24	c.*1267G>A	--	NM_014762.4 M	SNV	VUS	1 +	0
875113	DHCR24	c.*1389T>C	--	NM_014762.4 M	SNV	VUS	1 +	0

106 Results, 20 per Page

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