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Gene: IFT52 & Disease: SRTD16, 63 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1183241	IFT52	c.159G>A	p.Val53= (p.V53=)	NM_016004.5 M	SNV	B	1 +	2
1427662	IFT52	c.157G>A	p.Val53Met (p.V53M)	NM_016004.5 M	SNV	VUS	1 +	2
253306	IFT52	c.424C>T	p.Arg142Ter (p.R142X)	NM_016004.5 M	SNV	P	1 +	2
1183241	IFT52	c.159G>A	p.Val53= (p.V53=)	NM_001303458.3	SNV	B	1 +	2
	IFT52	c.159G>A	p.Val53= (p.V53=)	NM_001303459.3	SNV	B	1 +	2
	IFT52	c.-513G>A	--	NM_001323578.2	SNV	B	1 +	2
	IFT52	c.-606G>A	--	NM_001323579.2	SNV	B	1 +	2
	IFT52	c.-513G>A	--	NM_001323580.2	SNV	B	1 +	2
	IFT52	c.-606G>A	--	NM_001323581.2	SNV	B	1 +	2
1427662	IFT52	c.157G>A	p.Val53Met (p.V53M)	NM_001303458.3	SNV	VUS	1 +	2
	IFT52	c.157G>A	p.Val53Met (p.V53M)	NM_001303459.3	SNV	VUS	1 +	2
	IFT52	c.-515G>A	--	NM_001323578.2	SNV	VUS	1 +	2
	IFT52	c.-608G>A	--	NM_001323579.2	SNV	VUS	1 +	2
	IFT52	c.-515G>A	--	NM_001323580.2	SNV	VUS	1 +	2
	IFT52	c.-608G>A	--	NM_001323581.2	SNV	VUS	1 +	2
253306	IFT52	c.424C>T	p.Arg142Ter (p.R142X)	NM_001303458.3	SNV	P	1 +	2
	IFT52	c.424C>T	p.Arg142Ter (p.R142X)	NM_001303459.3	SNV	P	1 +	2
	IFT52	c.-248C>T	--	NM_001323578.2	SNV	P	1 +	2
	IFT52	c.-341C>T	--	NM_001323579.2	SNV	P	1 +	2
	IFT52	c.-248C>T	--	NM_001323580.2	SNV	P	1 +	2

63 Results, 20 per Page

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