Favorite

Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: PRPS1 & Disease: Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Recessive, 32 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
9935	PRPS1	c.344T>C	p.Met115Thr (p.M115T)	NM_002764.4 M	SNV	P	2 +	4
9935	PRPS1	c.-82-4238T>C	--	NM_001204402.2	SNV	P	2 +	4
94083	PRPS1	c.477C>T	p.Ile159= (p.I159=)	NM_002764.4 M	SNV	LB	5 +	3
94083	PRPS1	c.-82-2740C>T	--	NM_001204402.2	SNV	LB	5 +	3
508528	PRPS1	c.573G>A	p.Leu191= (p.L191=)	NM_002764.4 M	SNV	LB	5 +	2
382624	PRPS1	c.288G>A	p.Arg96= (p.R96=)	NM_002764.4 M	SNV	LB	5 +	2
422624	PRPS1	c.123-16dup	--	NM_002764.4 M	Dup	LB	5 +	2
9934	PRPS1	c.129A>C	p.Glu43Asp (p.E43D)	NM_002764.4 M	SNV	P	2 +	2
21323	PRPS1	c.447G>A	p.Pro149= (p.P149=)	NM_002764.4 M	SNV	LB	5 +	2
1228702	PRPS1	c.705-11T>C	--	NM_002764.4 M	SNV	LB	5 +	2
1356780	PRPS1	c.334G>A	p.Val112Ile (p.V112I)	NM_002764.4 M	SNV	VUS	5 +	2
508528	PRPS1	c.-40G>A	--	NM_001204402.2	SNV	LB	5 +	2
382624	PRPS1	c.-82-5717G>A	--	NM_001204402.2	SNV	LB	5 +	2
422624	PRPS1	c.-82-5898dup	--	NM_001204402.2	Dup	LB	5 +	2
9934	PRPS1	c.-82-5876A>C	--	NM_001204402.2	SNV	P	2 +	2
21323	PRPS1	c.-82-2770G>A	--	NM_001204402.2	SNV	LB	5 +	2
1228702	PRPS1	c.93-11T>C	--	NM_001204402.2	SNV	LB	5 +	2
1356780	PRPS1	c.-82-4248G>A	--	NM_001204402.2	SNV	VUS	5 +	2
1057937	PRPS1	c.611G>A	p.Arg204His (p.R204H)	NM_002764.4 M	SNV	VUS	5 +	1
1477376	PRPS1	c.383A>T	p.Asp128Val (p.D128V)	NM_002764.4 M	SNV	LP	2 +	1

32 Results, 20 per Page

Comparison