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Mutation Direct

Effortless mutation search and display tool

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Gene: PDGFB & Disease: Basal Ganglia Calcification, 2 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2585196	PDGFB	c.434A>C	p.Gln145Pro (p.Q145P)	NM_002608.4 M	SNV	VUS	2 +	1
2585196	PDGFB	c.389A>C	p.Gln130Pro (p.Q130P)	NM_033016.3	SNV	VUS	2 +	1

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