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Mutation Direct

Effortless mutation search and display tool

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Gene: CLPP & Disease: Perrault Syndrome, 3 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
55869	CLPP	c.440G>C	p.Cys147Ser (p.C147S)	NM_006012.4 M	SNV	P	2 +	4
55868	CLPP	c.433A>C	p.Thr145Pro (p.T145P)	NM_006012.4 M	SNV	P	2 +	3
55870	CLPP	c.270+4A>G	--	NM_006012.4 M	SNV	P	2 +	2

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