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Mutation Direct

Effortless mutation search and display tool

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Gene: PDGFRB & Disease: Basal Ganglia Calcification, 3 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1304805	PDGFRB	c.419C>T	p.Thr140Met (p.T140M)	NM_002609.4 M	SNV	LB	8 +	2
	PDGFRB	c.227C>T	p.Thr76Met (p.T76M)	NM_001355016.2	SNV	LB	8 +	2
	PDGFRB	c.-99C>T	--	NM_001355017.2	SNV	LB	8 +	2

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